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dbSNP Short Genetic Variations

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.

rs9894429

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:81629785 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.470986 (165965/352378, ALFA)
C=0.404817 (107151/264690, TOPMED)
C=0.434323 (60800/139988, GnomAD) (+ 23 more)
C=0.444971 (53732/120754, ExAC)
C=0.28618 (8087/28258, 14KJPN)
C=0.28479 (4773/16760, 8.3KJPN)
C=0.44221 (5471/12372, GO-ESP)
C=0.3251 (2082/6404, 1000G_30x)
C=0.3259 (1632/5008, 1000G)
T=0.4609 (2065/4480, Estonian)
T=0.4512 (1739/3854, ALSPAC)
T=0.4447 (1649/3708, TWINSUK)
C=0.2843 (833/2930, KOREAN)
C=0.3277 (683/2084, HGDP_Stanford)
C=0.3323 (628/1890, HapMap)
C=0.2702 (495/1832, Korea1K)
T=0.436 (435/998, GoNL)
C=0.277 (219/790, PRJEB37584)
T=0.465 (279/600, NorthernSweden)
T=0.404 (216/534, MGP)
C=0.193 (95/492, SGDP_PRJ)
T=0.431 (131/304, FINRISK)
C=0.380 (82/216, Qatari)
C=0.47 (44/94, Ancient Sardinia)
C=0.47 (19/40, GENOME_DK)
C=0.25 (8/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NPLOC4 : Synonymous Variant
Publications
1 citation
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 368878 C=0.525881 A=0.000003, T=0.474116
European Sub 311588 C=0.554723 A=0.000003, T=0.445274
African Sub 13970 C=0.26056 A=0.00000, T=0.73944
African Others Sub 510 C=0.178 A=0.000, T=0.822
African American Sub 13460 C=0.26367 A=0.00000, T=0.73633
Asian Sub 6830 C=0.2369 A=0.0000, T=0.7631
East Asian Sub 4886 C=0.2577 A=0.0000, T=0.7423
Other Asian Sub 1944 C=0.1847 A=0.0000, T=0.8153
Latin American 1 Sub 1380 C=0.4210 A=0.0000, T=0.5790
Latin American 2 Sub 6696 C=0.3091 A=0.0000, T=0.6909
South Asian Sub 5144 C=0.4077 A=0.0000, T=0.5923
Other Sub 23270 C=0.47851 A=0.00000, T=0.52149


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 352378 C=0.529011 A=0.000003, T=0.470986
Allele Frequency Aggregator European Sub 301378 C=0.554851 A=0.000003, T=0.445145
Allele Frequency Aggregator Other Sub 21818 C=0.47543 A=0.00000, T=0.52457
Allele Frequency Aggregator African Sub 9132 C=0.2686 A=0.0000, T=0.7314
Allele Frequency Aggregator Asian Sub 6830 C=0.2369 A=0.0000, T=0.7631
Allele Frequency Aggregator Latin American 2 Sub 6696 C=0.3091 A=0.0000, T=0.6909
Allele Frequency Aggregator South Asian Sub 5144 C=0.4077 A=0.0000, T=0.5923
Allele Frequency Aggregator Latin American 1 Sub 1380 C=0.4210 A=0.0000, T=0.5790
TopMed Global Study-wide 264690 C=0.404817 T=0.595183
gnomAD - Genomes Global Study-wide 139988 C=0.434323 T=0.565677
gnomAD - Genomes European Sub 75828 C=0.55462 T=0.44538
gnomAD - Genomes African Sub 41950 C=0.24758 T=0.75242
gnomAD - Genomes American Sub 13608 C=0.38014 T=0.61986
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.4810 T=0.5190
gnomAD - Genomes East Asian Sub 3128 C=0.2094 T=0.7906
gnomAD - Genomes Other Sub 2152 C=0.4331 T=0.5669
ExAC Global Study-wide 120754 C=0.444971 T=0.555029
ExAC Europe Sub 73350 C=0.54627 T=0.45373
ExAC Asian Sub 25126 C=0.31947 T=0.68053
ExAC American Sub 11576 C=0.24335 T=0.75665
ExAC African Sub 9804 C=0.2438 T=0.7562
ExAC Other Sub 898 C=0.478 T=0.522
14KJPN JAPANESE Study-wide 28258 C=0.28618 T=0.71382
8.3KJPN JAPANESE Study-wide 16760 C=0.28479 T=0.71521
GO Exome Sequencing Project Global Study-wide 12372 C=0.44221 T=0.55779
GO Exome Sequencing Project European American Sub 8356 C=0.5382 T=0.4618
GO Exome Sequencing Project African American Sub 4016 C=0.2425 T=0.7575
1000Genomes_30x Global Study-wide 6404 C=0.3251 T=0.6749
1000Genomes_30x African Sub 1786 C=0.1954 T=0.8046
1000Genomes_30x Europe Sub 1266 C=0.5845 T=0.4155
1000Genomes_30x South Asian Sub 1202 C=0.3569 T=0.6431
1000Genomes_30x East Asian Sub 1170 C=0.2179 T=0.7821
1000Genomes_30x American Sub 980 C=0.315 T=0.685
1000Genomes Global Study-wide 5008 C=0.3259 T=0.6741
1000Genomes African Sub 1322 C=0.1853 T=0.8147
1000Genomes East Asian Sub 1008 C=0.2232 T=0.7768
1000Genomes Europe Sub 1006 C=0.5885 T=0.4115
1000Genomes South Asian Sub 978 C=0.353 T=0.647
1000Genomes American Sub 694 C=0.324 T=0.676
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5391 T=0.4609
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5488 T=0.4512
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5553 T=0.4447
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.2843 G=0.0000, T=0.7157
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.3277 T=0.6723
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.255 T=0.745
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.399 T=0.601
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.446 T=0.554
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.569 T=0.431
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.231 T=0.769
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.019 T=0.981
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.00 T=1.00
HapMap Global Study-wide 1890 C=0.3323 T=0.6677
HapMap American Sub 770 C=0.387 T=0.613
HapMap African Sub 690 C=0.246 T=0.754
HapMap Asian Sub 254 C=0.264 T=0.736
HapMap Europe Sub 176 C=0.528 T=0.472
Korean Genome Project KOREAN Study-wide 1832 C=0.2702 T=0.7298
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.564 T=0.436
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.277 T=0.723
CNV burdens in cranial meningiomas CRM Sub 790 C=0.277 T=0.723
Northern Sweden ACPOP Study-wide 600 C=0.535 T=0.465
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.596 T=0.404
SGDP_PRJ Global Study-wide 492 C=0.193 T=0.807
FINRISK Finnish from FINRISK project Study-wide 304 C=0.569 T=0.431
Qatari Global Study-wide 216 C=0.380 T=0.620
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 C=0.47 T=0.53
The Danish reference pan genome Danish Study-wide 40 C=0.47 T=0.53
Siberian Global Study-wide 32 C=0.25 T=0.75
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 17 NC_000017.11:g.81629785C>A
GRCh38.p14 chr 17 NC_000017.11:g.81629785C>G
GRCh38.p14 chr 17 NC_000017.11:g.81629785C>T
GRCh37.p13 chr 17 NC_000017.10:g.79596811C>A
GRCh37.p13 chr 17 NC_000017.10:g.79596811C>G
GRCh37.p13 chr 17 NC_000017.10:g.79596811C>T
Gene: NPLOC4, NPL4 homolog, ubiquitin recognition factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NPLOC4 transcript variant 1 NM_017921.4:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 1 NP_060391.2:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 1 NM_017921.4:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 1 NP_060391.2:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 1 NM_017921.4:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 1 NP_060391.2:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 4 NM_001369698.1:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 2 NP_001356627.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 4 NM_001369698.1:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 2 NP_001356627.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 4 NM_001369698.1:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform 2 NP_001356627.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant 2 NR_130139.1:n. N/A Genic Upstream Transcript Variant
NPLOC4 transcript variant 3 NR_130140.2:n. N/A Genic Upstream Transcript Variant
NPLOC4 transcript variant X7 XM_047436368.1:c. N/A Genic Upstream Transcript Variant
NPLOC4 transcript variant X1 XM_011524979.2:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X1 XP_011523281.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X1 XM_011524979.2:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X1 XP_011523281.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X1 XM_011524979.2:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X1 XP_011523281.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X2 XM_011524980.2:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X2 XP_011523282.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X2 XM_011524980.2:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X2 XP_011523282.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X2 XM_011524980.2:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X2 XP_011523282.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X3 XM_047436365.1:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X3 XP_047292321.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X3 XM_047436365.1:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X3 XP_047292321.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X3 XM_047436365.1:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X3 XP_047292321.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X4 XM_011524982.3:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X4 XP_011523284.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X4 XM_011524982.3:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X4 XP_011523284.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X4 XM_011524982.3:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X4 XP_011523284.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X5 XM_047436366.1:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X5 XP_047292322.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X5 XM_047436366.1:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X5 XP_047292322.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X5 XM_047436366.1:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X5 XP_047292322.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X6 XM_047436367.1:c.36G>T P [CCG] > P [CCT] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X6 XP_047292323.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X6 XM_047436367.1:c.36G>C P [CCG] > P [CCC] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X6 XP_047292323.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
NPLOC4 transcript variant X6 XM_047436367.1:c.36G>A P [CCG] > P [CCA] Coding Sequence Variant
nuclear protein localization protein 4 homolog isoform X6 XP_047292323.1:p.Pro12= P (Pro) > P (Pro) Synonymous 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.

Not Reported in ClinVar
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 C= A G T
GRCh38.p14 chr 17 NC_000017.11:g.81629785= NC_000017.11:g.81629785C>A NC_000017.11:g.81629785C>G NC_000017.11:g.81629785C>T
GRCh37.p13 chr 17 NC_000017.10:g.79596811= NC_000017.10:g.79596811C>A NC_000017.10:g.79596811C>G NC_000017.10:g.79596811C>T
NPLOC4 transcript variant 1 NM_017921.4:c.36= NM_017921.4:c.36G>T NM_017921.4:c.36G>C NM_017921.4:c.36G>A
NPLOC4 transcript variant 1 NM_017921.3:c.36= NM_017921.3:c.36G>T NM_017921.3:c.36G>C NM_017921.3:c.36G>A
NPLOC4 transcript NM_017921.2:c.36= NM_017921.2:c.36G>T NM_017921.2:c.36G>C NM_017921.2:c.36G>A
NPLOC4 transcript variant X4 XM_011524982.3:c.36= XM_011524982.3:c.36G>T XM_011524982.3:c.36G>C XM_011524982.3:c.36G>A
NPLOC4 transcript variant X5 XM_011524982.2:c.36= XM_011524982.2:c.36G>T XM_011524982.2:c.36G>C XM_011524982.2:c.36G>A
NPLOC4 transcript variant X4 XM_011524982.1:c.36= XM_011524982.1:c.36G>T XM_011524982.1:c.36G>C XM_011524982.1:c.36G>A
NPLOC4 transcript variant X2 XM_011524980.2:c.36= XM_011524980.2:c.36G>T XM_011524980.2:c.36G>C XM_011524980.2:c.36G>A
NPLOC4 transcript variant X2 XM_011524980.1:c.36= XM_011524980.1:c.36G>T XM_011524980.1:c.36G>C XM_011524980.1:c.36G>A
NPLOC4 transcript variant X1 XM_011524979.2:c.36= XM_011524979.2:c.36G>T XM_011524979.2:c.36G>C XM_011524979.2:c.36G>A
NPLOC4 transcript variant X1 XM_011524979.1:c.36= XM_011524979.1:c.36G>T XM_011524979.1:c.36G>C XM_011524979.1:c.36G>A
NPLOC4 transcript variant X3 XM_047436365.1:c.36= XM_047436365.1:c.36G>T XM_047436365.1:c.36G>C XM_047436365.1:c.36G>A
NPLOC4 transcript variant 4 NM_001369698.1:c.36= NM_001369698.1:c.36G>T NM_001369698.1:c.36G>C NM_001369698.1:c.36G>A
NPLOC4 transcript variant X5 XM_047436366.1:c.36= XM_047436366.1:c.36G>T XM_047436366.1:c.36G>C XM_047436366.1:c.36G>A
NPLOC4 transcript variant X6 XM_047436367.1:c.36= XM_047436367.1:c.36G>T XM_047436367.1:c.36G>C XM_047436367.1:c.36G>A
nuclear protein localization protein 4 homolog isoform 1 NP_060391.2:p.Pro12= NP_060391.2:p.Pro12= NP_060391.2:p.Pro12= NP_060391.2:p.Pro12=
nuclear protein localization protein 4 homolog isoform X4 XP_011523284.1:p.Pro12= XP_011523284.1:p.Pro12= XP_011523284.1:p.Pro12= XP_011523284.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform X2 XP_011523282.1:p.Pro12= XP_011523282.1:p.Pro12= XP_011523282.1:p.Pro12= XP_011523282.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform X1 XP_011523281.1:p.Pro12= XP_011523281.1:p.Pro12= XP_011523281.1:p.Pro12= XP_011523281.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform X3 XP_047292321.1:p.Pro12= XP_047292321.1:p.Pro12= XP_047292321.1:p.Pro12= XP_047292321.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform 2 NP_001356627.1:p.Pro12= NP_001356627.1:p.Pro12= NP_001356627.1:p.Pro12= NP_001356627.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform X5 XP_047292322.1:p.Pro12= XP_047292322.1:p.Pro12= XP_047292322.1:p.Pro12= XP_047292322.1:p.Pro12=
nuclear protein localization protein 4 homolog isoform X6 XP_047292323.1:p.Pro12= XP_047292323.1:p.Pro12= XP_047292323.1:p.Pro12= XP_047292323.1:p.Pro12=
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#.

171 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss13731937 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17576865 Feb 27, 2004 (120)
3 SSAHASNP ss21395952 Apr 05, 2004 (121)
4 ABI ss44013793 Mar 15, 2006 (126)
5 ILLUMINA ss65736147 Oct 14, 2006 (127)
6 ILLUMINA ss66822948 Nov 29, 2006 (127)
7 ILLUMINA ss67957369 Nov 29, 2006 (127)
8 ILLUMINA ss68066954 Nov 29, 2006 (127)
9 ILLUMINA ss71631805 May 16, 2007 (127)
10 ILLUMINA ss75833686 Dec 06, 2007 (129)
11 ILLUMINA ss79307420 Dec 15, 2007 (130)
12 HGSV ss82493111 Dec 15, 2007 (130)
13 HGSV ss84789738 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss84869846 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss90679282 Mar 24, 2008 (129)
16 ILLUMINA ss98299347 May 26, 2008 (130)
17 BGI ss106523362 Feb 06, 2009 (130)
18 1000GENOMES ss109992316 Jan 24, 2009 (130)
19 ILLUMINA-UK ss118146630 Feb 14, 2009 (130)
20 ILLUMINA ss123057910 Dec 01, 2009 (131)
21 ENSEMBL ss136493739 Dec 01, 2009 (131)
22 ENSEMBL ss137211987 Dec 01, 2009 (131)
23 ILLUMINA ss154515596 Dec 01, 2009 (131)
24 GMI ss154711854 Dec 01, 2009 (131)
25 ILLUMINA ss159689434 Dec 01, 2009 (131)
26 ILLUMINA ss161021905 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168584412 Jul 04, 2010 (132)
28 ILLUMINA ss172514621 Jul 04, 2010 (132)
29 ILLUMINA ss174920933 Jul 04, 2010 (132)
30 BUSHMAN ss202855469 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss207949636 Jul 04, 2010 (132)
32 1000GENOMES ss211837887 Jul 14, 2010 (132)
33 1000GENOMES ss227686409 Jul 14, 2010 (132)
34 1000GENOMES ss237343342 Jul 15, 2010 (132)
35 1000GENOMES ss243618734 Jul 15, 2010 (132)
36 GMI ss282863380 May 04, 2012 (137)
37 GMI ss287224695 Apr 25, 2013 (138)
38 PJP ss292004285 May 09, 2011 (134)
39 ILLUMINA ss482008248 May 04, 2012 (137)
40 ILLUMINA ss482042387 May 04, 2012 (137)
41 ILLUMINA ss482993815 Sep 08, 2015 (146)
42 ILLUMINA ss485797677 May 04, 2012 (137)
43 1000GENOMES ss491134678 May 04, 2012 (137)
44 EXOME_CHIP ss491530007 May 04, 2012 (137)
45 CLINSEQ_SNP ss491745976 May 04, 2012 (137)
46 ILLUMINA ss537639770 Sep 08, 2015 (146)
47 TISHKOFF ss565442541 Apr 25, 2013 (138)
48 SSMP ss661259080 Apr 25, 2013 (138)
49 NHLBI-ESP ss713421863 Apr 25, 2013 (138)
50 ILLUMINA ss778650574 Sep 08, 2015 (146)
51 ILLUMINA ss780687654 Sep 08, 2015 (146)
52 ILLUMINA ss783344688 Sep 08, 2015 (146)
53 ILLUMINA ss783361219 Sep 08, 2015 (146)
54 ILLUMINA ss784296047 Sep 08, 2015 (146)
55 ILLUMINA ss825637938 Apr 01, 2015 (144)
56 ILLUMINA ss832606622 Sep 08, 2015 (146)
57 ILLUMINA ss833200099 Jul 13, 2019 (153)
58 ILLUMINA ss834108402 Sep 08, 2015 (146)
59 JMKIDD_LAB ss974501041 Aug 21, 2014 (142)
60 EVA-GONL ss993390864 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1067576763 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1081255117 Aug 21, 2014 (142)
63 1000GENOMES ss1359759010 Aug 21, 2014 (142)
64 DDI ss1428114269 Apr 01, 2015 (144)
65 EVA_GENOME_DK ss1578267927 Apr 01, 2015 (144)
66 EVA_FINRISK ss1584109584 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1636216296 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1679210329 Apr 01, 2015 (144)
69 EVA_EXAC ss1693034539 Apr 01, 2015 (144)
70 EVA_DECODE ss1697443216 Apr 01, 2015 (144)
71 EVA_MGP ss1711477122 Apr 01, 2015 (144)
72 EVA_SVP ss1713602151 Apr 01, 2015 (144)
73 ILLUMINA ss1752244348 Sep 08, 2015 (146)
74 ILLUMINA ss1752244349 Sep 08, 2015 (146)
75 HAMMER_LAB ss1808906670 Sep 08, 2015 (146)
76 ILLUMINA ss1917924513 Feb 12, 2016 (147)
77 WEILL_CORNELL_DGM ss1936858163 Feb 12, 2016 (147)
78 ILLUMINA ss1946479274 Feb 12, 2016 (147)
79 ILLUMINA ss1959777953 Feb 12, 2016 (147)
80 GENOMED ss1968446287 Jul 19, 2016 (147)
81 JJLAB ss2029200608 Sep 14, 2016 (149)
82 USC_VALOUEV ss2157692113 Dec 20, 2016 (150)
83 HUMAN_LONGEVITY ss2219077433 Dec 20, 2016 (150)
84 SYSTEMSBIOZJU ss2629096093 Nov 08, 2017 (151)
85 ILLUMINA ss2633433551 Nov 08, 2017 (151)
86 GRF ss2702258764 Nov 08, 2017 (151)
87 GNOMAD ss2743115697 Nov 08, 2017 (151)
88 GNOMAD ss2749899707 Nov 08, 2017 (151)
89 GNOMAD ss2953069172 Nov 08, 2017 (151)
90 AFFY ss2985108666 Nov 08, 2017 (151)
91 AFFY ss2985743873 Nov 08, 2017 (151)
92 SWEGEN ss3015995569 Nov 08, 2017 (151)
93 ILLUMINA ss3021813502 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3028424498 Nov 08, 2017 (151)
95 CSHL ss3351867947 Nov 08, 2017 (151)
96 ILLUMINA ss3627737904 Oct 12, 2018 (152)
97 ILLUMINA ss3627737905 Oct 12, 2018 (152)
98 ILLUMINA ss3631412181 Oct 12, 2018 (152)
99 ILLUMINA ss3633150849 Oct 12, 2018 (152)
100 ILLUMINA ss3633859122 Oct 12, 2018 (152)
101 ILLUMINA ss3634691173 Oct 12, 2018 (152)
102 ILLUMINA ss3634691174 Oct 12, 2018 (152)
103 ILLUMINA ss3635546664 Oct 12, 2018 (152)
104 ILLUMINA ss3636379444 Oct 12, 2018 (152)
105 ILLUMINA ss3637298233 Oct 12, 2018 (152)
106 ILLUMINA ss3638178306 Oct 12, 2018 (152)
107 ILLUMINA ss3639097153 Oct 12, 2018 (152)
108 ILLUMINA ss3639556175 Oct 12, 2018 (152)
109 ILLUMINA ss3640398483 Oct 12, 2018 (152)
110 ILLUMINA ss3640398484 Oct 12, 2018 (152)
111 ILLUMINA ss3643155337 Oct 12, 2018 (152)
112 ILLUMINA ss3644698332 Oct 12, 2018 (152)
113 OMUKHERJEE_ADBS ss3646518476 Oct 12, 2018 (152)
114 URBANLAB ss3650714536 Oct 12, 2018 (152)
115 ILLUMINA ss3652232215 Oct 12, 2018 (152)
116 ILLUMINA ss3653880809 Oct 12, 2018 (152)
117 EGCUT_WGS ss3682858701 Jul 13, 2019 (153)
118 EVA_DECODE ss3701029901 Jul 13, 2019 (153)
119 ILLUMINA ss3725650430 Jul 13, 2019 (153)
120 ACPOP ss3742266043 Jul 13, 2019 (153)
121 ILLUMINA ss3744451101 Jul 13, 2019 (153)
122 ILLUMINA ss3744991388 Jul 13, 2019 (153)
123 ILLUMINA ss3744991389 Jul 13, 2019 (153)
124 EVA ss3755003644 Jul 13, 2019 (153)
125 ILLUMINA ss3772488997 Jul 13, 2019 (153)
126 ILLUMINA ss3772488998 Jul 13, 2019 (153)
127 PACBIO ss3788283440 Jul 13, 2019 (153)
128 PACBIO ss3793226857 Jul 13, 2019 (153)
129 PACBIO ss3798113022 Jul 13, 2019 (153)
130 KHV_HUMAN_GENOMES ss3820266144 Jul 13, 2019 (153)
131 EVA ss3825168466 Apr 27, 2020 (154)
132 EVA ss3825910662 Apr 27, 2020 (154)
133 EVA ss3835007469 Apr 27, 2020 (154)
134 EVA ss3841116574 Apr 27, 2020 (154)
135 EVA ss3846615553 Apr 27, 2020 (154)
136 HGDP ss3847572513 Apr 27, 2020 (154)
137 SGDP_PRJ ss3886338606 Apr 27, 2020 (154)
138 KRGDB ss3936129497 Apr 27, 2020 (154)
139 KOGIC ss3979416701 Apr 27, 2020 (154)
140 FSA-LAB ss3984127166 Apr 26, 2021 (155)
141 EVA ss3984727851 Apr 26, 2021 (155)
142 EVA ss3985806682 Apr 26, 2021 (155)
143 EVA ss3986076481 Apr 26, 2021 (155)
144 EVA ss3986748347 Apr 26, 2021 (155)
145 TOPMED ss5045615723 Apr 26, 2021 (155)
146 TOMMO_GENOMICS ss5223735702 Apr 26, 2021 (155)
147 EVA ss5236948278 Apr 26, 2021 (155)
148 EVA ss5237241736 Apr 26, 2021 (155)
149 1000G_HIGH_COVERAGE ss5304135040 Oct 16, 2022 (156)
150 EVA ss5315908363 Oct 16, 2022 (156)
151 EVA ss5429383631 Oct 16, 2022 (156)
152 HUGCELL_USP ss5497079064 Oct 16, 2022 (156)
153 EVA ss5511839935 Oct 16, 2022 (156)
154 1000G_HIGH_COVERAGE ss5608318825 Oct 16, 2022 (156)
155 EVA ss5623973357 Oct 16, 2022 (156)
156 EVA ss5624077617 Oct 16, 2022 (156)
157 SANFORD_IMAGENETICS ss5624405146 Oct 16, 2022 (156)
158 SANFORD_IMAGENETICS ss5660651343 Oct 16, 2022 (156)
159 TOMMO_GENOMICS ss5780371773 Oct 16, 2022 (156)
160 EVA ss5799983611 Oct 16, 2022 (156)
161 EVA ss5800212815 Oct 16, 2022 (156)
162 YY_MCH ss5816779975 Oct 16, 2022 (156)
163 EVA ss5834367596 Oct 16, 2022 (156)
164 EVA ss5847480352 Oct 16, 2022 (156)
165 EVA ss5847810895 Oct 16, 2022 (156)
166 EVA ss5848462326 Oct 16, 2022 (156)
167 EVA ss5851921738 Oct 16, 2022 (156)
168 EVA ss5915050467 Oct 16, 2022 (156)
169 EVA ss5936569550 Oct 16, 2022 (156)
170 EVA ss5952055198 Oct 16, 2022 (156)
171 EVA ss5979517336 Oct 16, 2022 (156)
172 1000Genomes NC_000017.10 - 79596811 Oct 12, 2018 (152)
173 1000Genomes_30x NC_000017.11 - 81629785 Oct 16, 2022 (156)
174 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 79596811 Oct 12, 2018 (152)
175 Genetic variation in the Estonian population NC_000017.10 - 79596811 Oct 12, 2018 (152)
176 ExAC NC_000017.10 - 79596811 Oct 12, 2018 (152)
177 FINRISK NC_000017.10 - 79596811 Apr 27, 2020 (154)
178 The Danish reference pan genome NC_000017.10 - 79596811 Apr 27, 2020 (154)
179 gnomAD - Genomes NC_000017.11 - 81629785 Apr 26, 2021 (155)
180 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12424603 (NC_000017.10:79596810:C:C 249137/249138, NC_000017.10:79596810:C:A 1/249138)
Row 12424604 (NC_000017.10:79596810:C:C 110297/249138, NC_000017.10:79596810:C:T 138841/249138)

- Jul 13, 2019 (153)
181 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12424603 (NC_000017.10:79596810:C:C 249137/249138, NC_000017.10:79596810:C:A 1/249138)
Row 12424604 (NC_000017.10:79596810:C:C 110297/249138, NC_000017.10:79596810:C:T 138841/249138)

- Jul 13, 2019 (153)
182 GO Exome Sequencing Project NC_000017.10 - 79596811 Oct 12, 2018 (152)
183 Genome of the Netherlands Release 5 NC_000017.10 - 79596811 Apr 27, 2020 (154)
184 HGDP-CEPH-db Supplement 1 NC_000017.9 - 77207216 Apr 27, 2020 (154)
185 HapMap NC_000017.11 - 81629785 Apr 27, 2020 (154)
186 KOREAN population from KRGDB NC_000017.10 - 79596811 Apr 27, 2020 (154)
187 Korean Genome Project NC_000017.11 - 81629785 Apr 27, 2020 (154)
188 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 79596811 Apr 27, 2020 (154)
189 Northern Sweden NC_000017.10 - 79596811 Jul 13, 2019 (153)
190 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000017.10 - 79596811 Apr 26, 2021 (155)
191 CNV burdens in cranial meningiomas NC_000017.10 - 79596811 Apr 26, 2021 (155)
192 Qatari NC_000017.10 - 79596811 Apr 27, 2020 (154)
193 SGDP_PRJ NC_000017.10 - 79596811 Apr 27, 2020 (154)
194 Siberian NC_000017.10 - 79596811 Apr 27, 2020 (154)
195 8.3KJPN NC_000017.10 - 79596811 Apr 26, 2021 (155)
196 14KJPN NC_000017.11 - 81629785 Oct 16, 2022 (156)
197 TopMed NC_000017.11 - 81629785 Apr 26, 2021 (155)
198 UK 10K study - Twins NC_000017.10 - 79596811 Oct 12, 2018 (152)
199 ALFA NC_000017.11 - 81629785 Apr 26, 2021 (155)
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)
rs60837126 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2743115697 NC_000017.10:79596810:C:A NC_000017.11:81629784:C:A (self)
586913657 NC_000017.11:81629784:C:A NC_000017.11:81629784:C:A (self)
43306891, ss3936129497 NC_000017.10:79596810:C:G NC_000017.11:81629784:C:G (self)
250405, ss82493111, ss84789738, ss90679282, ss109992316, ss118146630, ss168584412, ss202855469, ss207949636, ss211837887, ss282863380, ss287224695, ss292004285, ss482008248, ss491745976, ss825637938, ss1697443216, ss1713602151, ss3639097153, ss3639556175, ss3643155337, ss3847572513 NC_000017.9:77207215:C:T NC_000017.11:81629784:C:T (self)
73043082, 40474008, 28596949, 3497031, 106045, 4465607, 1625505, 18029512, 43306891, 592882, 15550908, 1032609, 277401, 18900085, 38355586, 10208467, 81705009, 40474008, ss227686409, ss237343342, ss243618734, ss482042387, ss482993815, ss485797677, ss491134678, ss491530007, ss537639770, ss565442541, ss661259080, ss713421863, ss778650574, ss780687654, ss783344688, ss783361219, ss784296047, ss832606622, ss833200099, ss834108402, ss974501041, ss993390864, ss1067576763, ss1081255117, ss1359759010, ss1428114269, ss1578267927, ss1584109584, ss1636216296, ss1679210329, ss1693034539, ss1711477122, ss1752244348, ss1752244349, ss1808906670, ss1917924513, ss1936858163, ss1946479274, ss1959777953, ss1968446287, ss2029200608, ss2157692113, ss2629096093, ss2633433551, ss2702258764, ss2743115697, ss2749899707, ss2953069172, ss2985108666, ss2985743873, ss3015995569, ss3021813502, ss3351867947, ss3627737904, ss3627737905, ss3631412181, ss3633150849, ss3633859122, ss3634691173, ss3634691174, ss3635546664, ss3636379444, ss3637298233, ss3638178306, ss3640398483, ss3640398484, ss3644698332, ss3646518476, ss3652232215, ss3653880809, ss3682858701, ss3742266043, ss3744451101, ss3744991388, ss3744991389, ss3755003644, ss3772488997, ss3772488998, ss3788283440, ss3793226857, ss3798113022, ss3825168466, ss3825910662, ss3835007469, ss3841116574, ss3886338606, ss3936129497, ss3984127166, ss3984727851, ss3985806682, ss3986076481, ss3986748347, ss5223735702, ss5315908363, ss5429383631, ss5511839935, ss5623973357, ss5624077617, ss5624405146, ss5660651343, ss5799983611, ss5800212815, ss5834367596, ss5847480352, ss5847810895, ss5848462326, ss5936569550, ss5952055198, ss5979517336 NC_000017.10:79596810:C:T NC_000017.11:81629784:C:T (self)
95844760, 515404192, 1535577, 35794702, 114208877, 261161385, 586913657, ss2219077433, ss3028424498, ss3650714536, ss3701029901, ss3725650430, ss3820266144, ss3846615553, ss3979416701, ss5045615723, ss5236948278, ss5237241736, ss5304135040, ss5497079064, ss5608318825, ss5780371773, ss5816779975, ss5851921738, ss5915050467 NC_000017.11:81629784:C:T NC_000017.11:81629784:C:T (self)
ss44013793, ss65736147, ss66822948, ss67957369, ss68066954, ss71631805, ss75833686, ss79307420, ss84869846, ss98299347, ss106523362, ss123057910, ss136493739, ss137211987, ss154515596, ss154711854, ss159689434, ss161021905, ss172514621, ss174920933 NT_010783.15:44870962:C:T NC_000017.11:81629784:C:T (self)
ss13731937, ss17576865, ss21395952 NT_024871.11:1996159:C:T NC_000017.11:81629784:C:T (self)
Help

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

1 citation for rs9894429
PMID Title Author Year Journal
20463881 Digital quantification of human eye color highlights genetic association of three new loci. Liu F et al. 2010 PLoS genetics
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