Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs713998

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:26466246 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.122271 (42861/350542, ALFA)
T=0.204152 (54037/264690, TOPMED)
T=0.155759 (39157/251394, GnomAD_exome) (+ 25 more)
T=0.183208 (25673/140130, GnomAD)
T=0.151316 (18361/121342, ExAC)
T=0.26672 (20989/78692, PAGE_STUDY)
T=0.25564 (7224/28258, 14KJPN)
T=0.25465 (4268/16760, 8.3KJPN)
T=0.17946 (2334/13006, GO-ESP)
T=0.2080 (1332/6404, 1000G_30x)
T=0.2069 (1036/5008, 1000G)
T=0.0531 (238/4480, Estonian)
T=0.1178 (454/3854, ALSPAC)
T=0.1165 (432/3708, TWINSUK)
T=0.2464 (722/2930, KOREAN)
T=0.2020 (421/2084, HGDP_Stanford)
T=0.2172 (411/1892, HapMap)
T=0.117 (117/998, GoNL)
T=0.218 (165/756, PRJEB37584)
T=0.193 (119/616, Vietnamese)
T=0.122 (73/600, NorthernSweden)
T=0.185 (99/536, SGDP_PRJ)
T=0.127 (68/534, MGP)
T=0.069 (21/304, FINRISK)
T=0.106 (23/216, Qatari)
T=0.14 (10/74, Ancient Sardinia)
T=0.09 (5/54, Siberian)
T=0.10 (4/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HPS4 : Missense Variant
Publications
3 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 366698 T=0.124672 C=0.875328
European Sub 309786 T=0.109369 C=0.890631
African Sub 16538 T=0.30886 C=0.69114
African Others Sub 592 T=0.333 C=0.667
African American Sub 15946 T=0.30798 C=0.69202
Asian Sub 6930 T=0.2338 C=0.7662
East Asian Sub 4964 T=0.2375 C=0.7625
Other Asian Sub 1966 T=0.2243 C=0.7757
Latin American 1 Sub 1428 T=0.1730 C=0.8270
Latin American 2 Sub 3176 T=0.2834 C=0.7166
South Asian Sub 5224 T=0.0995 C=0.9005
Other Sub 23616 T=0.14571 C=0.85429


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 350542 T=0.122271 C=0.877729
Allele Frequency Aggregator European Sub 299900 T=0.109243 C=0.890757
Allele Frequency Aggregator Other Sub 22176 T=0.14534 C=0.85466
Allele Frequency Aggregator African Sub 11708 T=0.30654 C=0.69346
Allele Frequency Aggregator Asian Sub 6930 T=0.2338 C=0.7662
Allele Frequency Aggregator South Asian Sub 5224 T=0.0995 C=0.9005
Allele Frequency Aggregator Latin American 2 Sub 3176 T=0.2834 C=0.7166
Allele Frequency Aggregator Latin American 1 Sub 1428 T=0.1730 C=0.8270
TopMed Global Study-wide 264690 T=0.204152 C=0.795848
gnomAD - Exomes Global Study-wide 251394 T=0.155759 C=0.844241
gnomAD - Exomes European Sub 135374 T=0.098010 C=0.901990
gnomAD - Exomes Asian Sub 48998 T=0.14056 C=0.85944
gnomAD - Exomes American Sub 34558 T=0.33853 C=0.66147
gnomAD - Exomes African Sub 16246 T=0.31700 C=0.68300
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.13267 C=0.86733
gnomAD - Exomes Other Sub 6140 T=0.1329 C=0.8671
gnomAD - Genomes Global Study-wide 140130 T=0.183208 C=0.816792
gnomAD - Genomes European Sub 75924 T=0.09910 C=0.90090
gnomAD - Genomes African Sub 41954 T=0.31313 C=0.68687
gnomAD - Genomes American Sub 13654 T=0.25546 C=0.74454
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.1330 C=0.8670
gnomAD - Genomes East Asian Sub 3128 T=0.2164 C=0.7836
gnomAD - Genomes Other Sub 2146 T=0.1887 C=0.8113
ExAC Global Study-wide 121342 T=0.151316 C=0.848684
ExAC Europe Sub 73324 T=0.10235 C=0.89765
ExAC Asian Sub 25152 T=0.13562 C=0.86438
ExAC American Sub 11554 T=0.35390 C=0.64610
ExAC African Sub 10404 T=0.31171 C=0.68829
ExAC Other Sub 908 T=0.124 C=0.876
The PAGE Study Global Study-wide 78692 T=0.26672 C=0.73328
The PAGE Study AfricanAmerican Sub 32510 T=0.30588 C=0.69412
The PAGE Study Mexican Sub 10810 T=0.30194 C=0.69806
The PAGE Study Asian Sub 8316 T=0.2362 C=0.7638
The PAGE Study PuertoRican Sub 7916 T=0.2326 C=0.7674
The PAGE Study NativeHawaiian Sub 4534 T=0.1822 C=0.8178
The PAGE Study Cuban Sub 4230 T=0.1634 C=0.8366
The PAGE Study Dominican Sub 3828 T=0.2103 C=0.7897
The PAGE Study CentralAmerican Sub 2450 T=0.3290 C=0.6710
The PAGE Study SouthAmerican Sub 1982 T=0.2482 C=0.7518
The PAGE Study NativeAmerican Sub 1260 T=0.2016 C=0.7984
The PAGE Study SouthAsian Sub 856 T=0.119 C=0.881
14KJPN JAPANESE Study-wide 28258 T=0.25564 C=0.74436
8.3KJPN JAPANESE Study-wide 16760 T=0.25465 C=0.74535
GO Exome Sequencing Project Global Study-wide 13006 T=0.17946 C=0.82054
GO Exome Sequencing Project European American Sub 8600 T=0.1119 C=0.8881
GO Exome Sequencing Project African American Sub 4406 T=0.3114 C=0.6886
1000Genomes_30x Global Study-wide 6404 T=0.2080 C=0.7920
1000Genomes_30x African Sub 1786 T=0.3309 C=0.6691
1000Genomes_30x Europe Sub 1266 T=0.0869 C=0.9131
1000Genomes_30x South Asian Sub 1202 T=0.1165 C=0.8835
1000Genomes_30x East Asian Sub 1170 T=0.1957 C=0.8043
1000Genomes_30x American Sub 980 T=0.267 C=0.733
1000Genomes Global Study-wide 5008 T=0.2069 C=0.7931
1000Genomes African Sub 1322 T=0.3306 C=0.6694
1000Genomes East Asian Sub 1008 T=0.1974 C=0.8026
1000Genomes Europe Sub 1006 T=0.0895 C=0.9105
1000Genomes South Asian Sub 978 T=0.122 C=0.878
1000Genomes American Sub 694 T=0.275 C=0.725
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0531 C=0.9469
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.1178 C=0.8822
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.1165 C=0.8835
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2464 A=0.0000, C=0.7536
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.2020 C=0.7980
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.202 C=0.798
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.118 C=0.882
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.117 C=0.883
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.081 C=0.919
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.318 C=0.682
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.505 C=0.495
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.33 C=0.67
HapMap Global Study-wide 1892 T=0.2172 C=0.7828
HapMap American Sub 770 T=0.160 C=0.840
HapMap African Sub 692 T=0.312 C=0.688
HapMap Asian Sub 254 T=0.232 C=0.768
HapMap Europe Sub 176 T=0.074 C=0.926
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.117 C=0.883
CNV burdens in cranial meningiomas Global Study-wide 756 T=0.218 C=0.782
CNV burdens in cranial meningiomas CRM Sub 756 T=0.218 C=0.782
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.193 C=0.807
Northern Sweden ACPOP Study-wide 600 T=0.122 C=0.878
SGDP_PRJ Global Study-wide 536 T=0.185 C=0.815
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.127 C=0.873
FINRISK Finnish from FINRISK project Study-wide 304 T=0.069 C=0.931
Qatari Global Study-wide 216 T=0.106 C=0.894
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 T=0.14 C=0.86
Siberian Global Study-wide 54 T=0.09 C=0.91
The Danish reference pan genome Danish Study-wide 40 T=0.10 C=0.90
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 22 NC_000022.11:g.26466246T>A
GRCh38.p14 chr 22 NC_000022.11:g.26466246T>C
GRCh37.p13 chr 22 NC_000022.10:g.26862212T>A
GRCh37.p13 chr 22 NC_000022.10:g.26862212T>C
HPS4 RefSeqGene (LRG_590) NG_009763.2:g.22618A>T
HPS4 RefSeqGene (LRG_590) NG_009763.2:g.22618A>G
Gene: HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HPS4 transcript variant 2 NM_152841.2:c.671A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform b NP_690054.1:p.Glu224Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 2 NM_152841.2:c.671A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform b NP_690054.1:p.Glu224Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 3 NM_001349896.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336825.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 3 NM_001349896.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336825.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 10 NM_001349902.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform d NP_001336831.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 10 NM_001349902.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform d NP_001336831.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 9 NM_001349901.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform c NP_001336830.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 9 NM_001349901.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform c NP_001336830.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 13 NM_001349905.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform e NP_001336834.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 13 NM_001349905.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform e NP_001336834.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 4 NM_001349898.2:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336827.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 4 NM_001349898.2:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336827.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 8 NM_001349900.2:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform c NP_001336829.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 8 NM_001349900.2:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform c NP_001336829.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 11 NM_001349903.2:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform d NP_001336832.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 11 NM_001349903.2:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform d NP_001336832.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 12 NM_001349904.2:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform e NP_001336833.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 12 NM_001349904.2:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform e NP_001336833.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 7 NM_001349899.2:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336828.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 7 NM_001349899.2:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_001336828.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 1 NM_022081.6:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_071364.4:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant 1 NM_022081.6:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform a NP_071364.4:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant 5 NR_073135.1:n.1372A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 5 NR_073135.1:n.1372A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 17 NR_146314.1:n.1439A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 17 NR_146314.1:n.1439A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 15 NR_146312.1:n.1288A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 15 NR_146312.1:n.1288A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 6 NR_073136.2:n.887A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 6 NR_073136.2:n.887A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 16 NR_146313.2:n.1228A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 16 NR_146313.2:n.1228A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 14 NR_146311.2:n.1383A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 14 NR_146311.2:n.1383A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 18 NR_146315.2:n.1299A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 18 NR_146315.2:n.1299A>G N/A Non Coding Transcript Variant
HPS4 transcript variant 19 NR_146316.2:n.1274A>T N/A Non Coding Transcript Variant
HPS4 transcript variant 19 NR_146316.2:n.1274A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X36 XM_011530495.3:c.-3= N/A 5 Prime UTR Variant
HPS4 transcript variant X37 XM_011530496.3:c.-29= N/A 5 Prime UTR Variant
HPS4 transcript variant X38 XM_047441584.1:c.-110= N/A 5 Prime UTR Variant
HPS4 transcript variant X1 XM_011530486.3:c.764A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X1 XP_011528788.1:p.Glu255Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X1 XM_011530486.3:c.764A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X1 XP_011528788.1:p.Glu255Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X2 XM_011530490.4:c.764A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X2 XP_011528792.1:p.Glu255Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X2 XM_011530490.4:c.764A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X2 XP_011528792.1:p.Glu255Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X3 XM_047441561.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297517.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X3 XM_047441561.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297517.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X4 XM_047441562.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297518.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X4 XM_047441562.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297518.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X5 XM_047441563.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297519.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X5 XM_047441563.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X3 XP_047297519.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X9 XM_047441564.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X4 XP_047297520.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X9 XM_047441564.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X4 XP_047297520.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X12 XM_047441565.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297521.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X12 XM_047441565.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297521.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X13 XM_047441566.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297522.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X13 XM_047441566.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297522.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X14 XM_047441567.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297523.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X14 XM_047441567.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X5 XP_047297523.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X15 XM_017029046.3:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_016884535.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X15 XM_017029046.3:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_016884535.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X16 XM_047441568.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_047297524.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X16 XM_047441568.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_047297524.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X17 XM_047441569.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_047297525.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X17 XM_047441569.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X6 XP_047297525.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X18 XM_047441570.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
Hermansky-Pudlak syndrome 4 protein isoform X6 XP_047297526.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X18 XM_047441570.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
Hermansky-Pudlak syndrome 4 protein isoform X6 XP_047297526.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X19 XM_047441571.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297527.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X19 XM_047441571.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297527.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X20 XM_047441572.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297528.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X20 XM_047441572.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297528.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X21 XM_047441573.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297529.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X21 XM_047441573.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297529.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X22 XM_047441574.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297530.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X22 XM_047441574.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X7 XP_047297530.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X23 XM_047441575.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297531.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X23 XM_047441575.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297531.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X24 XM_047441576.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297532.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X24 XM_047441576.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297532.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X25 XM_047441577.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297533.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X25 XM_047441577.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X8 XP_047297533.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X27 XM_047441578.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297534.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X27 XM_047441578.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297534.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X28 XM_047441579.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297535.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X28 XM_047441579.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297535.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X29 XM_047441580.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297536.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X29 XM_047441580.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X9 XP_047297536.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X30 XM_047441581.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297537.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X30 XM_047441581.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297537.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X31 XM_047441582.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297538.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X31 XM_047441582.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297538.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X33 XM_047441583.1:c.686A>T E [GAG] > V [GTG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297539.1:p.Glu229Val E (Glu) > V (Val) Missense Variant
HPS4 transcript variant X33 XM_047441583.1:c.686A>G E [GAG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X10 XP_047297539.1:p.Glu229Gly E (Glu) > G (Gly) Missense Variant
HPS4 transcript variant X35 XM_017029053.2:c.88A>T R [AGG] > W [TGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X11 XP_016884542.1:p.Arg30Trp R (Arg) > W (Trp) Missense Variant
HPS4 transcript variant X35 XM_017029053.2:c.88A>G R [AGG] > G [GGG] Coding Sequence Variant
BLOC-3 complex member HPS4 isoform X11 XP_016884542.1:p.Arg30Gly R (Arg) > G (Gly) Missense Variant
HPS4 transcript variant X6 XR_001755361.3:n.1274A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X6 XR_001755361.3:n.1274A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X7 XR_007067983.1:n.1263A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X7 XR_007067983.1:n.1263A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X8 XR_007067984.1:n.1203A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X8 XR_007067984.1:n.1203A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X10 XR_007067985.1:n.1263A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X10 XR_007067985.1:n.1263A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X11 XR_007067986.1:n.1203A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X11 XR_007067986.1:n.1203A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X18 XR_007067987.1:n.1203A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X18 XR_007067987.1:n.1203A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X26 XR_007067988.1:n.1274A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X26 XR_007067988.1:n.1274A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X32 XR_007067989.1:n.1274A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X32 XR_007067989.1:n.1274A>G N/A Non Coding Transcript Variant
HPS4 transcript variant X34 XR_001755364.2:n.1263A>T N/A Non Coding Transcript Variant
HPS4 transcript variant X34 XR_001755364.2:n.1263A>G N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 176371 )
ClinVar Accession Disease Names Clinical Significance
RCV000150822.4 not specified Benign
RCV000260978.3 Hermansky-Pudlak syndrome Benign
RCV001519477.6 not provided Benign
RCV001701685.2 Hermansky-Pudlak syndrome 4 Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A C
GRCh38.p14 chr 22 NC_000022.11:g.26466246= NC_000022.11:g.26466246T>A NC_000022.11:g.26466246T>C
GRCh37.p13 chr 22 NC_000022.10:g.26862212= NC_000022.10:g.26862212T>A NC_000022.10:g.26862212T>C
HPS4 RefSeqGene (LRG_590) NG_009763.2:g.22618= NG_009763.2:g.22618A>T NG_009763.2:g.22618A>G
HPS4 transcript variant 1 NM_022081.6:c.686= NM_022081.6:c.686A>T NM_022081.6:c.686A>G
HPS4 transcript variant 1 NM_022081.5:c.686= NM_022081.5:c.686A>T NM_022081.5:c.686A>G
HPS4 transcript variant 4 NM_001349898.2:c.686= NM_001349898.2:c.686A>T NM_001349898.2:c.686A>G
HPS4 transcript variant 4 NM_001349898.1:c.686= NM_001349898.1:c.686A>T NM_001349898.1:c.686A>G
HPS4 transcript variant 14 NR_146311.2:n.1383= NR_146311.2:n.1383A>T NR_146311.2:n.1383A>G
HPS4 transcript variant 14 NR_146311.1:n.1463= NR_146311.1:n.1463A>T NR_146311.1:n.1463A>G
HPS4 transcript variant 8 NM_001349900.2:c.686= NM_001349900.2:c.686A>T NM_001349900.2:c.686A>G
HPS4 transcript variant 8 NM_001349900.1:c.686= NM_001349900.1:c.686A>T NM_001349900.1:c.686A>G
HPS4 transcript variant 18 NR_146315.2:n.1299= NR_146315.2:n.1299A>T NR_146315.2:n.1299A>G
HPS4 transcript variant 18 NR_146315.1:n.1379= NR_146315.1:n.1379A>T NR_146315.1:n.1379A>G
HPS4 transcript variant 16 NR_146313.2:n.1228= NR_146313.2:n.1228A>T NR_146313.2:n.1228A>G
HPS4 transcript variant 16 NR_146313.1:n.1308= NR_146313.1:n.1308A>T NR_146313.1:n.1308A>G
HPS4 transcript variant 7 NM_001349899.2:c.686= NM_001349899.2:c.686A>T NM_001349899.2:c.686A>G
HPS4 transcript variant 7 NM_001349899.1:c.686= NM_001349899.1:c.686A>T NM_001349899.1:c.686A>G
HPS4 transcript variant 11 NM_001349903.2:c.686= NM_001349903.2:c.686A>T NM_001349903.2:c.686A>G
HPS4 transcript variant 11 NM_001349903.1:c.686= NM_001349903.1:c.686A>T NM_001349903.1:c.686A>G
HPS4 transcript variant 2 NM_152841.2:c.671= NM_152841.2:c.671A>T NM_152841.2:c.671A>G
HPS4 transcript variant 6 NR_073136.2:n.887= NR_073136.2:n.887A>T NR_073136.2:n.887A>G
HPS4 transcript variant 6 NR_073136.1:n.1080= NR_073136.1:n.1080A>T NR_073136.1:n.1080A>G
HPS4 transcript variant 19 NR_146316.2:n.1274= NR_146316.2:n.1274A>T NR_146316.2:n.1274A>G
HPS4 transcript variant 19 NR_146316.1:n.1354= NR_146316.1:n.1354A>T NR_146316.1:n.1354A>G
HPS4 transcript variant 12 NM_001349904.2:c.686= NM_001349904.2:c.686A>T NM_001349904.2:c.686A>G
HPS4 transcript variant 12 NM_001349904.1:c.686= NM_001349904.1:c.686A>T NM_001349904.1:c.686A>G
HPS4 transcript variant 17 NR_146314.1:n.1439= NR_146314.1:n.1439A>T NR_146314.1:n.1439A>G
HPS4 transcript variant 5 NR_073135.1:n.1372= NR_073135.1:n.1372A>T NR_073135.1:n.1372A>G
HPS4 transcript variant 9 NM_001349901.1:c.686= NM_001349901.1:c.686A>T NM_001349901.1:c.686A>G
HPS4 transcript variant 15 NR_146312.1:n.1288= NR_146312.1:n.1288A>T NR_146312.1:n.1288A>G
HPS4 transcript variant 3 NM_001349896.1:c.686= NM_001349896.1:c.686A>T NM_001349896.1:c.686A>G
HPS4 transcript variant 10 NM_001349902.1:c.686= NM_001349902.1:c.686A>T NM_001349902.1:c.686A>G
HPS4 transcript variant 13 NM_001349905.1:c.686= NM_001349905.1:c.686A>T NM_001349905.1:c.686A>G
HPS4 transcript variant X2 XM_011530490.4:c.764= XM_011530490.4:c.764A>T XM_011530490.4:c.764A>G
HPS4 transcript variant X7 XM_011530490.3:c.764= XM_011530490.3:c.764A>T XM_011530490.3:c.764A>G
HPS4 transcript variant X7 XM_011530490.2:c.764= XM_011530490.2:c.764A>T XM_011530490.2:c.764A>G
HPS4 transcript variant X7 XM_011530490.1:c.764= XM_011530490.1:c.764A>T XM_011530490.1:c.764A>G
HPS4 transcript variant X1 XM_011530486.3:c.764= XM_011530486.3:c.764A>T XM_011530486.3:c.764A>G
HPS4 transcript variant X2 XM_011530486.2:c.764= XM_011530486.2:c.764A>T XM_011530486.2:c.764A>G
HPS4 transcript variant X2 XM_011530486.1:c.764= XM_011530486.1:c.764A>T XM_011530486.1:c.764A>G
HPS4 transcript variant X15 XM_017029046.3:c.686= XM_017029046.3:c.686A>T XM_017029046.3:c.686A>G
HPS4 transcript variant X14 XM_017029046.2:c.686= XM_017029046.2:c.686A>T XM_017029046.2:c.686A>G
HPS4 transcript variant X19 XM_017029046.1:c.686= XM_017029046.1:c.686A>T XM_017029046.1:c.686A>G
HPS4 transcript variant X6 XR_001755361.3:n.1274= XR_001755361.3:n.1274A>T XR_001755361.3:n.1274A>G
HPS4 transcript variant X8 XR_001755361.2:n.1340= XR_001755361.2:n.1340A>T XR_001755361.2:n.1340A>G
HPS4 transcript variant X10 XR_001755361.1:n.1345= XR_001755361.1:n.1345A>T XR_001755361.1:n.1345A>G
HPS4 transcript variant X36 XM_011530495.3:c.-3= XM_011530495.3:c.-3A>T XM_011530495.3:c.-3A>G
HPS4 transcript variant X21 XM_011530495.2:c.-3= XM_011530495.2:c.-3A>T XM_011530495.2:c.-3A>G
HPS4 transcript variant X15 XM_011530495.1:c.-3= XM_011530495.1:c.-3A>T XM_011530495.1:c.-3A>G
HPS4 transcript variant X37 XM_011530496.3:c.-29= XM_011530496.3:c.-29A>T XM_011530496.3:c.-29A>G
HPS4 transcript variant X23 XM_011530496.2:c.-29= XM_011530496.2:c.-29A>T XM_011530496.2:c.-29A>G
HPS4 transcript variant X16 XM_011530496.1:c.-29= XM_011530496.1:c.-29A>T XM_011530496.1:c.-29A>G
HPS4 transcript variant X35 XM_017029053.2:c.88= XM_017029053.2:c.88A>T XM_017029053.2:c.88A>G
HPS4 transcript variant X18 XM_017029053.1:c.88= XM_017029053.1:c.88A>T XM_017029053.1:c.88A>G
HPS4 transcript variant X34 XR_001755364.2:n.1263= XR_001755364.2:n.1263A>T XR_001755364.2:n.1263A>G
HPS4 transcript variant X16 XR_001755364.1:n.1250= XR_001755364.1:n.1250A>T XR_001755364.1:n.1250A>G
HPS4 transcript variant 20 NM_001410832.1:c.686= NM_001410832.1:c.686A>T NM_001410832.1:c.686A>G
HPS4 transcript variant X4 XM_047441562.1:c.686= XM_047441562.1:c.686A>T XM_047441562.1:c.686A>G
HPS4 transcript variant X5 XM_047441563.1:c.686= XM_047441563.1:c.686A>T XM_047441563.1:c.686A>G
HPS4 transcript variant X9 XM_047441564.1:c.686= XM_047441564.1:c.686A>T XM_047441564.1:c.686A>G
HPS4 transcript variant X3 XM_047441561.1:c.686= XM_047441561.1:c.686A>T XM_047441561.1:c.686A>G
HPS4 transcript variant X30 XM_047441581.1:c.686= XM_047441581.1:c.686A>T XM_047441581.1:c.686A>G
HPS4 transcript variant X33 XM_047441583.1:c.686= XM_047441583.1:c.686A>T XM_047441583.1:c.686A>G
HPS4 transcript variant X23 XM_047441575.1:c.686= XM_047441575.1:c.686A>T XM_047441575.1:c.686A>G
HPS4 transcript variant X24 XM_047441576.1:c.686= XM_047441576.1:c.686A>T XM_047441576.1:c.686A>G
HPS4 transcript variant X25 XM_047441577.1:c.686= XM_047441577.1:c.686A>T XM_047441577.1:c.686A>G
HPS4 transcript variant X31 XM_047441582.1:c.686= XM_047441582.1:c.686A>T XM_047441582.1:c.686A>G
HPS4 transcript variant X18 XR_007067987.1:n.1203= XR_007067987.1:n.1203A>T XR_007067987.1:n.1203A>G
HPS4 transcript variant 3 NM_152840.1:c.*204= NM_152840.1:c.*204A>T NM_152840.1:c.*204A>G
HPS4 transcript variant X17 XM_047441569.1:c.686= XM_047441569.1:c.686A>T XM_047441569.1:c.686A>G
HPS4 transcript variant 5 NM_152842.1:c.671= NM_152842.1:c.671A>T NM_152842.1:c.671A>G
HPS4 transcript variant X12 XM_047441565.1:c.686= XM_047441565.1:c.686A>T XM_047441565.1:c.686A>G
HPS4 transcript variant X13 XM_047441566.1:c.686= XM_047441566.1:c.686A>T XM_047441566.1:c.686A>G
HPS4 transcript variant X16 XM_047441568.1:c.686= XM_047441568.1:c.686A>T XM_047441568.1:c.686A>G
HPS4 transcript variant X14 XM_047441567.1:c.686= XM_047441567.1:c.686A>T XM_047441567.1:c.686A>G
HPS4 transcript variant X18 XM_047441570.1:c.686= XM_047441570.1:c.686A>T XM_047441570.1:c.686A>G
HPS4 transcript variant X21 XM_047441573.1:c.686= XM_047441573.1:c.686A>T XM_047441573.1:c.686A>G
HPS4 transcript variant X27 XM_047441578.1:c.686= XM_047441578.1:c.686A>T XM_047441578.1:c.686A>G
HPS4 transcript variant X29 XM_047441580.1:c.686= XM_047441580.1:c.686A>T XM_047441580.1:c.686A>G
HPS4 transcript variant X19 XM_047441571.1:c.686= XM_047441571.1:c.686A>T XM_047441571.1:c.686A>G
HPS4 transcript variant X7 XR_007067983.1:n.1263= XR_007067983.1:n.1263A>T XR_007067983.1:n.1263A>G
HPS4 transcript variant X20 XM_047441572.1:c.686= XM_047441572.1:c.686A>T XM_047441572.1:c.686A>G
HPS4 transcript variant X10 XR_007067985.1:n.1263= XR_007067985.1:n.1263A>T XR_007067985.1:n.1263A>G
HPS4 transcript variant X8 XR_007067984.1:n.1203= XR_007067984.1:n.1203A>T XR_007067984.1:n.1203A>G
HPS4 transcript variant X22 XM_047441574.1:c.686= XM_047441574.1:c.686A>T XM_047441574.1:c.686A>G
HPS4 transcript variant X11 XR_007067986.1:n.1203= XR_007067986.1:n.1203A>T XR_007067986.1:n.1203A>G
HPS4 transcript variant X28 XM_047441579.1:c.686= XM_047441579.1:c.686A>T XM_047441579.1:c.686A>G
HPS4 transcript variant X26 XR_007067988.1:n.1274= XR_007067988.1:n.1274A>T XR_007067988.1:n.1274A>G
HPS4 transcript variant X32 XR_007067989.1:n.1274= XR_007067989.1:n.1274A>T XR_007067989.1:n.1274A>G
HPS4 transcript variant X38 XM_047441584.1:c.-110= XM_047441584.1:c.-110A>T XM_047441584.1:c.-110A>G
HPS4 transcript variant 4 NM_152843.1:c.686= NM_152843.1:c.686A>T NM_152843.1:c.686A>G
BLOC-3 complex member HPS4 isoform a NP_071364.4:p.Glu229= NP_071364.4:p.Glu229Val NP_071364.4:p.Glu229Gly
BLOC-3 complex member HPS4 isoform a NP_001336827.1:p.Glu229= NP_001336827.1:p.Glu229Val NP_001336827.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform c NP_001336829.1:p.Glu229= NP_001336829.1:p.Glu229Val NP_001336829.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform a NP_001336828.1:p.Glu229= NP_001336828.1:p.Glu229Val NP_001336828.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform d NP_001336832.1:p.Glu229= NP_001336832.1:p.Glu229Val NP_001336832.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform b NP_690054.1:p.Glu224= NP_690054.1:p.Glu224Val NP_690054.1:p.Glu224Gly
BLOC-3 complex member HPS4 isoform e NP_001336833.1:p.Glu229= NP_001336833.1:p.Glu229Val NP_001336833.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform c NP_001336830.1:p.Glu229= NP_001336830.1:p.Glu229Val NP_001336830.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform a NP_001336825.1:p.Glu229= NP_001336825.1:p.Glu229Val NP_001336825.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform d NP_001336831.1:p.Glu229= NP_001336831.1:p.Glu229Val NP_001336831.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform e NP_001336834.1:p.Glu229= NP_001336834.1:p.Glu229Val NP_001336834.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X2 XP_011528792.1:p.Glu255= XP_011528792.1:p.Glu255Val XP_011528792.1:p.Glu255Gly
BLOC-3 complex member HPS4 isoform X1 XP_011528788.1:p.Glu255= XP_011528788.1:p.Glu255Val XP_011528788.1:p.Glu255Gly
BLOC-3 complex member HPS4 isoform X6 XP_016884535.1:p.Glu229= XP_016884535.1:p.Glu229Val XP_016884535.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X11 XP_016884542.1:p.Arg30= XP_016884542.1:p.Arg30Trp XP_016884542.1:p.Arg30Gly
BLOC-3 complex member HPS4 isoform X3 XP_047297518.1:p.Glu229= XP_047297518.1:p.Glu229Val XP_047297518.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X3 XP_047297519.1:p.Glu229= XP_047297519.1:p.Glu229Val XP_047297519.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X4 XP_047297520.1:p.Glu229= XP_047297520.1:p.Glu229Val XP_047297520.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X3 XP_047297517.1:p.Glu229= XP_047297517.1:p.Glu229Val XP_047297517.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X10 XP_047297537.1:p.Glu229= XP_047297537.1:p.Glu229Val XP_047297537.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X10 XP_047297539.1:p.Glu229= XP_047297539.1:p.Glu229Val XP_047297539.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X8 XP_047297531.1:p.Glu229= XP_047297531.1:p.Glu229Val XP_047297531.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X8 XP_047297532.1:p.Glu229= XP_047297532.1:p.Glu229Val XP_047297532.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X8 XP_047297533.1:p.Glu229= XP_047297533.1:p.Glu229Val XP_047297533.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X10 XP_047297538.1:p.Glu229= XP_047297538.1:p.Glu229Val XP_047297538.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X6 XP_047297525.1:p.Glu229= XP_047297525.1:p.Glu229Val XP_047297525.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X5 XP_047297521.1:p.Glu229= XP_047297521.1:p.Glu229Val XP_047297521.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X5 XP_047297522.1:p.Glu229= XP_047297522.1:p.Glu229Val XP_047297522.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X6 XP_047297524.1:p.Glu229= XP_047297524.1:p.Glu229Val XP_047297524.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X5 XP_047297523.1:p.Glu229= XP_047297523.1:p.Glu229Val XP_047297523.1:p.Glu229Gly
Hermansky-Pudlak syndrome 4 protein isoform X6 XP_047297526.1:p.Glu229= XP_047297526.1:p.Glu229Val XP_047297526.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X7 XP_047297529.1:p.Glu229= XP_047297529.1:p.Glu229Val XP_047297529.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X9 XP_047297534.1:p.Glu229= XP_047297534.1:p.Glu229Val XP_047297534.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X9 XP_047297536.1:p.Glu229= XP_047297536.1:p.Glu229Val XP_047297536.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X7 XP_047297527.1:p.Glu229= XP_047297527.1:p.Glu229Val XP_047297527.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X7 XP_047297528.1:p.Glu229= XP_047297528.1:p.Glu229Val XP_047297528.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X7 XP_047297530.1:p.Glu229= XP_047297530.1:p.Glu229Val XP_047297530.1:p.Glu229Gly
BLOC-3 complex member HPS4 isoform X9 XP_047297535.1:p.Glu229= XP_047297535.1:p.Glu229Val XP_047297535.1:p.Glu229Gly
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

185 SubSNP, 28 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss22912 Oct 05, 2000 (86)
2 YUSUKE ss4933155 Aug 28, 2002 (108)
3 SC_SNP ss8015142 Apr 21, 2003 (114)
4 WI_SSAHASNP ss12524990 Jul 11, 2003 (116)
5 SC_SNP ss13353276 Dec 05, 2003 (119)
6 SSAHASNP ss21861091 Apr 05, 2004 (121)
7 APPLERA_GI ss48402817 Mar 13, 2006 (126)
8 ILLUMINA ss65729203 Oct 15, 2006 (127)
9 ILLUMINA ss66657700 Nov 30, 2006 (127)
10 ILLUMINA ss67545632 Nov 30, 2006 (127)
11 ILLUMINA ss67919202 Nov 30, 2006 (127)
12 ILLUMINA ss70910842 May 24, 2008 (130)
13 ILLUMINA ss71508481 May 17, 2007 (127)
14 AFFY ss74806303 Aug 16, 2007 (128)
15 ILLUMINA ss75500562 Dec 06, 2007 (129)
16 ILLUMINA ss79247077 Dec 15, 2007 (130)
17 HGSV ss81146686 Dec 15, 2007 (130)
18 HGSV ss81195607 Dec 15, 2007 (130)
19 HGSV ss81850544 Dec 15, 2007 (130)
20 KRIBB_YJKIM ss83527630 Dec 15, 2007 (130)
21 BCMHGSC_JDW ss91897304 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss96096049 Feb 05, 2009 (130)
23 BGI ss103849114 Dec 01, 2009 (131)
24 1000GENOMES ss112586911 Jan 25, 2009 (130)
25 1000GENOMES ss114101869 Jan 25, 2009 (130)
26 ILLUMINA-UK ss117379159 Feb 14, 2009 (130)
27 ILLUMINA ss122697408 Dec 01, 2009 (131)
28 ENSEMBL ss138343326 Dec 01, 2009 (131)
29 ENSEMBL ss143820300 Dec 01, 2009 (131)
30 ILLUMINA ss154407095 Dec 01, 2009 (131)
31 GMI ss157093783 Dec 01, 2009 (131)
32 ILLUMINA ss159582234 Dec 01, 2009 (131)
33 SEATTLESEQ ss159744121 Dec 01, 2009 (131)
34 ILLUMINA ss160851734 Dec 01, 2009 (131)
35 COMPLETE_GENOMICS ss167783279 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss169029159 Jul 04, 2010 (132)
37 COMPLETE_GENOMICS ss171885512 Jul 04, 2010 (132)
38 ILLUMINA ss172250211 Jul 04, 2010 (132)
39 ILLUMINA ss174257922 Jul 04, 2010 (132)
40 BUSHMAN ss204066213 Jul 04, 2010 (132)
41 BCM-HGSC-SUB ss208829621 Jul 04, 2010 (132)
42 1000GENOMES ss228643094 Jul 14, 2010 (132)
43 1000GENOMES ss238040652 Jul 15, 2010 (132)
44 1000GENOMES ss244166459 Jul 15, 2010 (132)
45 BL ss255867941 May 09, 2011 (134)
46 GMI ss283609174 May 04, 2012 (137)
47 GMI ss287557388 Apr 25, 2013 (138)
48 PJP ss292746481 May 09, 2011 (134)
49 NHLBI-ESP ss342539226 May 09, 2011 (134)
50 ILLUMINA ss481478450 May 04, 2012 (137)
51 ILLUMINA ss481506699 May 04, 2012 (137)
52 ILLUMINA ss482484695 Sep 08, 2015 (146)
53 ILLUMINA ss485534441 May 04, 2012 (137)
54 1000GENOMES ss491190119 May 04, 2012 (137)
55 EXOME_CHIP ss491569763 May 04, 2012 (137)
56 CLINSEQ_SNP ss491822040 May 04, 2012 (137)
57 ILLUMINA ss535711510 Sep 08, 2015 (146)
58 ILLUMINA ss537439981 Sep 08, 2015 (146)
59 TISHKOFF ss566592502 Apr 25, 2013 (138)
60 SSMP ss662522340 Apr 25, 2013 (138)
61 ILLUMINA ss778965302 Sep 08, 2015 (146)
62 ILLUMINA ss780761150 Aug 21, 2014 (142)
63 ILLUMINA ss783212738 Sep 08, 2015 (146)
64 ILLUMINA ss783440112 Aug 21, 2014 (142)
65 ILLUMINA ss784167417 Sep 08, 2015 (146)
66 ILLUMINA ss825577595 Jul 19, 2016 (147)
67 ILLUMINA ss832472878 Sep 08, 2015 (146)
68 ILLUMINA ss833093284 Jul 13, 2019 (153)
69 ILLUMINA ss834427287 Sep 08, 2015 (146)
70 JMKIDD_LAB ss974512395 Aug 21, 2014 (142)
71 EVA-GONL ss995274802 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1067605051 Aug 21, 2014 (142)
73 JMKIDD_LAB ss1082604908 Aug 21, 2014 (142)
74 1000GENOMES ss1366883930 Aug 21, 2014 (142)
75 DDI ss1429236281 Apr 01, 2015 (144)
76 EVA_GENOME_DK ss1579723306 Apr 01, 2015 (144)
77 EVA_FINRISK ss1584127058 Apr 01, 2015 (144)
78 EVA_UK10K_ALSPAC ss1639843935 Apr 01, 2015 (144)
79 EVA_UK10K_TWINSUK ss1682837968 Apr 01, 2015 (144)
80 EVA_EXAC ss1694283828 Apr 01, 2015 (144)
81 EVA_DECODE ss1699343289 Apr 01, 2015 (144)
82 EVA_MGP ss1711565221 Apr 01, 2015 (144)
83 EVA_SVP ss1713735061 Apr 01, 2015 (144)
84 ILLUMINA ss1752416635 Sep 08, 2015 (146)
85 ILLUMINA ss1752416636 Sep 08, 2015 (146)
86 HAMMER_LAB ss1809757481 Sep 08, 2015 (146)
87 ILLUMINA ss1917954418 Feb 12, 2016 (147)
88 WEILL_CORNELL_DGM ss1938842036 Feb 12, 2016 (147)
89 ILLUMINA ss1946583030 Feb 12, 2016 (147)
90 ILLUMINA ss1959971845 Feb 12, 2016 (147)
91 GENOMED ss1969257504 Jul 19, 2016 (147)
92 JJLAB ss2030192529 Sep 14, 2016 (149)
93 USC_VALOUEV ss2158806810 Dec 20, 2016 (150)
94 HUMAN_LONGEVITY ss2246753582 Dec 20, 2016 (150)
95 SYSTEMSBIOZJU ss2629594849 Nov 08, 2017 (151)
96 ILLUMINA ss2633868382 Nov 08, 2017 (151)
97 GRF ss2704556785 Nov 08, 2017 (151)
98 GNOMAD ss2745042543 Nov 08, 2017 (151)
99 GNOMAD ss2750525995 Nov 08, 2017 (151)
100 GNOMAD ss2973584279 Nov 08, 2017 (151)
101 AFFY ss2985235790 Nov 08, 2017 (151)
102 SWEGEN ss3019185880 Nov 08, 2017 (151)
103 ILLUMINA ss3022178198 Nov 08, 2017 (151)
104 BIOINF_KMB_FNS_UNIBA ss3028933506 Nov 08, 2017 (151)
105 CSHL ss3352803630 Nov 08, 2017 (151)
106 ILLUMINA ss3628516583 Oct 12, 2018 (152)
107 ILLUMINA ss3628516584 Oct 12, 2018 (152)
108 ILLUMINA ss3628516585 Oct 12, 2018 (152)
109 ILLUMINA ss3631820217 Oct 12, 2018 (152)
110 ILLUMINA ss3633270418 Oct 12, 2018 (152)
111 ILLUMINA ss3633986019 Oct 12, 2018 (152)
112 ILLUMINA ss3634863636 Oct 12, 2018 (152)
113 ILLUMINA ss3634863637 Oct 12, 2018 (152)
114 ILLUMINA ss3635670529 Oct 12, 2018 (152)
115 ILLUMINA ss3636559452 Oct 12, 2018 (152)
116 ILLUMINA ss3637422760 Oct 12, 2018 (152)
117 ILLUMINA ss3638377870 Oct 12, 2018 (152)
118 ILLUMINA ss3639192608 Oct 12, 2018 (152)
119 ILLUMINA ss3639612572 Oct 12, 2018 (152)
120 ILLUMINA ss3640570938 Oct 12, 2018 (152)
121 ILLUMINA ss3640570939 Oct 12, 2018 (152)
122 ILLUMINA ss3643338010 Oct 12, 2018 (152)
123 ILLUMINA ss3644797994 Oct 12, 2018 (152)
124 OMUKHERJEE_ADBS ss3646565725 Oct 12, 2018 (152)
125 URBANLAB ss3651164395 Oct 12, 2018 (152)
126 ILLUMINA ss3652640081 Oct 12, 2018 (152)
127 ILLUMINA ss3654003637 Oct 12, 2018 (152)
128 EGCUT_WGS ss3685681754 Jul 13, 2019 (153)
129 EVA_DECODE ss3708053486 Jul 13, 2019 (153)
130 ILLUMINA ss3725961682 Jul 13, 2019 (153)
131 ACPOP ss3743868685 Jul 13, 2019 (153)
132 ILLUMINA ss3744501507 Jul 13, 2019 (153)
133 ILLUMINA ss3745163455 Jul 13, 2019 (153)
134 ILLUMINA ss3745163456 Jul 13, 2019 (153)
135 EVA ss3759293417 Jul 13, 2019 (153)
136 PAGE_CC ss3772085799 Jul 13, 2019 (153)
137 ILLUMINA ss3772659433 Jul 13, 2019 (153)
138 ILLUMINA ss3772659434 Jul 13, 2019 (153)
139 PACBIO ss3788808492 Jul 13, 2019 (153)
140 PACBIO ss3793677452 Jul 13, 2019 (153)
141 PACBIO ss3798563874 Jul 13, 2019 (153)
142 KHV_HUMAN_GENOMES ss3822460323 Jul 13, 2019 (153)
143 EVA ss3825434276 Apr 27, 2020 (154)
144 EVA ss3825967950 Apr 27, 2020 (154)
145 EVA ss3835953254 Apr 27, 2020 (154)
146 EVA ss3841605481 Apr 27, 2020 (154)
147 EVA ss3847120175 Apr 27, 2020 (154)
148 HGDP ss3847686445 Apr 27, 2020 (154)
149 SGDP_PRJ ss3890395479 Apr 27, 2020 (154)
150 KRGDB ss3940791201 Apr 27, 2020 (154)
151 FSA-LAB ss3984232720 Apr 27, 2021 (155)
152 EVA ss3984759145 Apr 27, 2021 (155)
153 EVA ss3985912959 Apr 27, 2021 (155)
154 EVA ss3986087313 Apr 27, 2021 (155)
155 EVA ss3986858056 Apr 27, 2021 (155)
156 EVA ss4017876410 Apr 27, 2021 (155)
157 TOPMED ss5106721600 Apr 27, 2021 (155)
158 TOMMO_GENOMICS ss5232297108 Apr 27, 2021 (155)
159 EVA ss5236989998 Apr 27, 2021 (155)
160 EVA ss5237255519 Apr 27, 2021 (155)
161 EVA ss5237676129 Oct 16, 2022 (156)
162 1000G_HIGH_COVERAGE ss5310850851 Oct 16, 2022 (156)
163 TRAN_CS_UWATERLOO ss5314457458 Oct 16, 2022 (156)
164 EVA ss5316050451 Oct 16, 2022 (156)
165 EVA ss5440849365 Oct 16, 2022 (156)
166 HUGCELL_USP ss5502715195 Oct 16, 2022 (156)
167 EVA ss5512358215 Oct 16, 2022 (156)
168 1000G_HIGH_COVERAGE ss5618291160 Oct 16, 2022 (156)
169 EVA ss5623983412 Oct 16, 2022 (156)
170 EVA ss5624121414 Oct 16, 2022 (156)
171 SANFORD_IMAGENETICS ss5664355915 Oct 16, 2022 (156)
172 TOMMO_GENOMICS ss5793313445 Oct 16, 2022 (156)
173 EVA ss5800038802 Oct 16, 2022 (156)
174 EVA ss5800075583 Oct 16, 2022 (156)
175 EVA ss5800235279 Oct 16, 2022 (156)
176 YY_MCH ss5818649231 Oct 16, 2022 (156)
177 EVA ss5821972704 Oct 16, 2022 (156)
178 EVA ss5847941432 Oct 16, 2022 (156)
179 EVA ss5848565236 Oct 16, 2022 (156)
180 EVA ss5853366527 Oct 16, 2022 (156)
181 EVA ss5881537222 Oct 16, 2022 (156)
182 EVA ss5936580029 Oct 16, 2022 (156)
183 EVA ss5959204842 Oct 16, 2022 (156)
184 EVA ss5981129621 Oct 16, 2022 (156)
185 EVA ss5981321546 Oct 16, 2022 (156)
186 1000Genomes NC_000022.10 - 26862212 Oct 12, 2018 (152)
187 1000Genomes_30x NC_000022.11 - 26466246 Oct 16, 2022 (156)
188 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 26862212 Oct 12, 2018 (152)
189 Genetic variation in the Estonian population NC_000022.10 - 26862212 Oct 12, 2018 (152)
190 ExAC NC_000022.10 - 26862212 Oct 12, 2018 (152)
191 FINRISK NC_000022.10 - 26862212 Apr 27, 2020 (154)
192 The Danish reference pan genome NC_000022.10 - 26862212 Apr 27, 2020 (154)
193 gnomAD - Genomes NC_000022.11 - 26466246 Apr 27, 2021 (155)
194 gnomAD - Exomes NC_000022.10 - 26862212 Jul 13, 2019 (153)
195 GO Exome Sequencing Project NC_000022.10 - 26862212 Oct 12, 2018 (152)
196 Genome of the Netherlands Release 5 NC_000022.10 - 26862212 Apr 27, 2020 (154)
197 HGDP-CEPH-db Supplement 1 NC_000022.9 - 25192212 Apr 27, 2020 (154)
198 HapMap NC_000022.11 - 26466246 Apr 27, 2020 (154)
199 KOREAN population from KRGDB NC_000022.10 - 26862212 Apr 27, 2020 (154)
200 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 26862212 Apr 27, 2020 (154)
201 Northern Sweden NC_000022.10 - 26862212 Jul 13, 2019 (153)
202 The PAGE Study NC_000022.11 - 26466246 Jul 13, 2019 (153)
203 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 26862212 Apr 27, 2021 (155)
204 CNV burdens in cranial meningiomas NC_000022.10 - 26862212 Apr 27, 2021 (155)
205 Qatari NC_000022.10 - 26862212 Apr 27, 2020 (154)
206 SGDP_PRJ NC_000022.10 - 26862212 Apr 27, 2020 (154)
207 Siberian NC_000022.10 - 26862212 Apr 27, 2020 (154)
208 8.3KJPN NC_000022.10 - 26862212 Apr 27, 2021 (155)
209 14KJPN NC_000022.11 - 26466246 Oct 16, 2022 (156)
210 TopMed NC_000022.11 - 26466246 Apr 27, 2021 (155)
211 UK 10K study - Twins NC_000022.10 - 26862212 Oct 12, 2018 (152)
212 A Vietnamese Genetic Variation Database NC_000022.10 - 26862212 Jul 13, 2019 (153)
213 ALFA NC_000022.11 - 26466246 Apr 27, 2021 (155)
214 ClinVar RCV000150822.4 Oct 16, 2022 (156)
215 ClinVar RCV000260978.3 Oct 16, 2022 (156)
216 ClinVar RCV001519477.6 Oct 16, 2022 (156)
217 ClinVar RCV001701685.2 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3747133 Oct 08, 2002 (108)
rs52789876 Sep 21, 2007 (128)
rs58701632 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47968595, ss3940791201 NC_000022.10:26862211:T:A NC_000022.11:26466245:T:A (self)
ss81146686, ss81195607, ss81850544, ss3639192608, ss3639612572 NC_000022.8:25186765:T:C NC_000022.11:26466245:T:C (self)
364337, ss91897304, ss112586911, ss114101869, ss117379159, ss167783279, ss169029159, ss171885512, ss204066213, ss208829621, ss255867941, ss283609174, ss287557388, ss292746481, ss481478450, ss491822040, ss825577595, ss1699343289, ss1713735061, ss3643338010, ss3847686445 NC_000022.9:25192211:T:C NC_000022.11:26466245:T:C (self)
80425654, 44482240, 31420002, 5860142, 123519, 5888245, 14372539, 1891122, 19822092, 47968595, 680981, 17153550, 1138886, 308727, 20883958, 42412459, 11323164, 90266415, 44482240, 9815485, ss228643094, ss238040652, ss244166459, ss342539226, ss481506699, ss482484695, ss485534441, ss491190119, ss491569763, ss535711510, ss537439981, ss566592502, ss662522340, ss778965302, ss780761150, ss783212738, ss783440112, ss784167417, ss832472878, ss833093284, ss834427287, ss974512395, ss995274802, ss1067605051, ss1082604908, ss1366883930, ss1429236281, ss1579723306, ss1584127058, ss1639843935, ss1682837968, ss1694283828, ss1711565221, ss1752416635, ss1752416636, ss1809757481, ss1917954418, ss1938842036, ss1946583030, ss1959971845, ss1969257504, ss2030192529, ss2158806810, ss2629594849, ss2633868382, ss2704556785, ss2745042543, ss2750525995, ss2973584279, ss2985235790, ss3019185880, ss3022178198, ss3352803630, ss3628516583, ss3628516584, ss3628516585, ss3631820217, ss3633270418, ss3633986019, ss3634863636, ss3634863637, ss3635670529, ss3636559452, ss3637422760, ss3638377870, ss3640570938, ss3640570939, ss3644797994, ss3646565725, ss3652640081, ss3654003637, ss3685681754, ss3743868685, ss3744501507, ss3745163455, ss3745163456, ss3759293417, ss3772659433, ss3772659434, ss3788808492, ss3793677452, ss3798563874, ss3825434276, ss3825967950, ss3835953254, ss3841605481, ss3890395479, ss3940791201, ss3984232720, ss3984759145, ss3985912959, ss3986087313, ss3986858056, ss4017876410, ss5232297108, ss5316050451, ss5440849365, ss5512358215, ss5623983412, ss5624121414, ss5664355915, ss5800038802, ss5800075583, ss5800235279, ss5821972704, ss5847941432, ss5848565236, ss5936580029, ss5959204842, ss5981129621, ss5981321546 NC_000022.10:26862211:T:C NC_000022.11:26466245:T:C (self)
RCV000150822.4, RCV000260978.3, RCV001519477.6, RCV001701685.2, 105817095, 567924731, 2238041, 1307268, 127150549, 381830547, 7471767686, ss2246753582, ss3028933506, ss3651164395, ss3708053486, ss3725961682, ss3772085799, ss3822460323, ss3847120175, ss5106721600, ss5236989998, ss5237255519, ss5237676129, ss5310850851, ss5314457458, ss5502715195, ss5618291160, ss5793313445, ss5818649231, ss5853366527, ss5881537222 NC_000022.11:26466245:T:C NC_000022.11:26466245:T:C (self)
ss12524990, ss13353276, ss21861091 NT_011520.9:6252780:T:C NC_000022.11:26466245:T:C (self)
ss22912, ss4933155, ss8015142, ss48402817, ss65729203, ss66657700, ss67545632, ss67919202, ss70910842, ss71508481, ss74806303, ss75500562, ss79247077, ss83527630, ss96096049, ss103849114, ss122697408, ss138343326, ss143820300, ss154407095, ss157093783, ss159582234, ss159744121, ss160851734, ss172250211, ss174257922 NT_011520.12:6252780:T:C NC_000022.11:26466245:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs713998
PMID Title Author Year Journal
23563589 An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. Saito A et al. 2013 Psychiatric genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07