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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.

rs472294

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:73644452 (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=0.084930 (28454/335028, ALFA)
T=0.117114 (30999/264690, TOPMED)
T=0.098810 (24837/251362, GnomAD_exome) (+ 26 more)
T=0.106906 (14976/140086, GnomAD)
T=0.097956 (11883/121310, ExAC)
T=0.14657 (11535/78698, PAGE_STUDY)
T=0.16806 (4749/28258, 14KJPN)
T=0.16903 (2833/16760, 8.3KJPN)
T=0.10195 (1326/13006, GO-ESP)
T=0.1362 (872/6404, 1000G_30x)
T=0.1332 (667/5008, 1000G)
T=0.0694 (311/4480, Estonian)
T=0.0688 (265/3854, ALSPAC)
T=0.0715 (265/3708, TWINSUK)
T=0.1621 (475/2930, KOREAN)
T=0.1324 (276/2084, HGDP_Stanford)
T=0.082 (82/998, GoNL)
T=0.147 (115/784, PRJEB37584)
T=0.202 (124/614, Vietnamese)
T=0.063 (38/600, NorthernSweden)
T=0.107 (57/534, MGP)
T=0.137 (45/328, HapMap)
T=0.046 (14/304, FINRISK)
T=0.185 (40/216, Qatari)
C=0.437 (55/126, SGDP_PRJ)
T=0.21 (12/56, Ancient Sardinia)
T=0.15 (6/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC17A5 : 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 356416 C=0.914387 T=0.085613
European Sub 305824 C=0.921416 T=0.078584
African Sub 14988 C=0.84528 T=0.15472
African Others Sub 564 C=0.826 T=0.174
African American Sub 14424 C=0.84602 T=0.15398
Asian Sub 3988 C=0.8398 T=0.1602
East Asian Sub 3212 C=0.8375 T=0.1625
Other Asian Sub 776 C=0.849 T=0.151
Latin American 1 Sub 1488 C=0.8515 T=0.1485
Latin American 2 Sub 7240 C=0.8749 T=0.1251
South Asian Sub 5224 C=0.8999 T=0.1001
Other Sub 17664 C=0.89397 T=0.10603


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 335028 C=0.915070 T=0.084930
Allele Frequency Aggregator European Sub 292646 C=0.921086 T=0.078914
Allele Frequency Aggregator Other Sub 15430 C=0.89229 T=0.10771
Allele Frequency Aggregator African Sub 9012 C=0.8437 T=0.1563
Allele Frequency Aggregator Latin American 2 Sub 7240 C=0.8749 T=0.1251
Allele Frequency Aggregator South Asian Sub 5224 C=0.8999 T=0.1001
Allele Frequency Aggregator Asian Sub 3988 C=0.8398 T=0.1602
Allele Frequency Aggregator Latin American 1 Sub 1488 C=0.8515 T=0.1485
TopMed Global Study-wide 264690 C=0.882886 T=0.117114
gnomAD - Exomes Global Study-wide 251362 C=0.901190 T=0.098810
gnomAD - Exomes European Sub 135358 C=0.930717 T=0.069283
gnomAD - Exomes Asian Sub 48988 C=0.87234 T=0.12766
gnomAD - Exomes American Sub 34552 C=0.86924 T=0.13076
gnomAD - Exomes African Sub 16254 C=0.85044 T=0.14956
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=0.84528 T=0.15472
gnomAD - Exomes Other Sub 6134 C=0.8864 T=0.1136
gnomAD - Genomes Global Study-wide 140086 C=0.893094 T=0.106906
gnomAD - Genomes European Sub 75912 C=0.93064 T=0.06936
gnomAD - Genomes African Sub 41944 C=0.84658 T=0.15342
gnomAD - Genomes American Sub 13636 C=0.85707 T=0.14293
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.8411 T=0.1589
gnomAD - Genomes East Asian Sub 3124 C=0.8319 T=0.1681
gnomAD - Genomes Other Sub 2148 C=0.8724 T=0.1276
ExAC Global Study-wide 121310 C=0.902044 T=0.097956
ExAC Europe Sub 73288 C=0.92437 T=0.07563
ExAC Asian Sub 25154 C=0.87565 T=0.12435
ExAC American Sub 11574 C=0.86772 T=0.13228
ExAC African Sub 10386 C=0.84768 T=0.15232
ExAC Other Sub 908 C=0.891 T=0.109
The PAGE Study Global Study-wide 78698 C=0.85343 T=0.14657
The PAGE Study AfricanAmerican Sub 32512 C=0.84993 T=0.15007
The PAGE Study Mexican Sub 10810 C=0.87919 T=0.12081
The PAGE Study Asian Sub 8318 C=0.8293 T=0.1707
The PAGE Study PuertoRican Sub 7918 C=0.8527 T=0.1473
The PAGE Study NativeHawaiian Sub 4534 C=0.8262 T=0.1738
The PAGE Study Cuban Sub 4230 C=0.8747 T=0.1253
The PAGE Study Dominican Sub 3828 C=0.8545 T=0.1455
The PAGE Study CentralAmerican Sub 2450 C=0.8482 T=0.1518
The PAGE Study SouthAmerican Sub 1982 C=0.8461 T=0.1539
The PAGE Study NativeAmerican Sub 1260 C=0.8968 T=0.1032
The PAGE Study SouthAsian Sub 856 C=0.904 T=0.096
14KJPN JAPANESE Study-wide 28258 C=0.83194 T=0.16806
8.3KJPN JAPANESE Study-wide 16760 C=0.83097 T=0.16903
GO Exome Sequencing Project Global Study-wide 13006 C=0.89805 T=0.10195
GO Exome Sequencing Project European American Sub 8600 C=0.9266 T=0.0734
GO Exome Sequencing Project African American Sub 4406 C=0.8423 T=0.1577
1000Genomes_30x Global Study-wide 6404 C=0.8638 T=0.1362
1000Genomes_30x African Sub 1786 C=0.8326 T=0.1674
1000Genomes_30x Europe Sub 1266 C=0.9281 T=0.0719
1000Genomes_30x South Asian Sub 1202 C=0.9101 T=0.0899
1000Genomes_30x East Asian Sub 1170 C=0.8205 T=0.1795
1000Genomes_30x American Sub 980 C=0.833 T=0.167
1000Genomes Global Study-wide 5008 C=0.8668 T=0.1332
1000Genomes African Sub 1322 C=0.8359 T=0.1641
1000Genomes East Asian Sub 1008 C=0.8155 T=0.1845
1000Genomes Europe Sub 1006 C=0.9274 T=0.0726
1000Genomes South Asian Sub 978 C=0.916 T=0.084
1000Genomes American Sub 694 C=0.843 T=0.157
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9306 T=0.0694
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9312 T=0.0688
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9285 T=0.0715
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8379 T=0.1621
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8676 T=0.1324
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.813 T=0.187
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.889 T=0.111
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.826 T=0.174
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.922 T=0.078
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.860 T=0.140
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.898 T=0.102
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=1.00 T=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.918 T=0.082
CNV burdens in cranial meningiomas Global Study-wide 784 C=0.853 T=0.147
CNV burdens in cranial meningiomas CRM Sub 784 C=0.853 T=0.147
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.798 T=0.202
Northern Sweden ACPOP Study-wide 600 C=0.937 T=0.063
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.893 T=0.107
HapMap Global Study-wide 328 C=0.863 T=0.137
HapMap African Sub 120 C=0.817 T=0.183
HapMap American Sub 120 C=0.967 T=0.033
HapMap Asian Sub 88 C=0.78 T=0.22
FINRISK Finnish from FINRISK project Study-wide 304 C=0.954 T=0.046
Qatari Global Study-wide 216 C=0.815 T=0.185
SGDP_PRJ Global Study-wide 126 C=0.437 T=0.563
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 C=0.79 T=0.21
The Danish reference pan genome Danish Study-wide 40 C=0.85 T=0.15
Siberian Global Study-wide 6 C=0.5 T=0.5
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 6 NC_000006.12:g.73644452C>A
GRCh38.p14 chr 6 NC_000006.12:g.73644452C>G
GRCh38.p14 chr 6 NC_000006.12:g.73644452C>T
GRCh37.p13 chr 6 NC_000006.11:g.74354175C>A
GRCh37.p13 chr 6 NC_000006.11:g.74354175C>G
GRCh37.p13 chr 6 NC_000006.11:g.74354175C>T
SLC17A5 RefSeqGene NG_008272.1:g.14563G>T
SLC17A5 RefSeqGene NG_008272.1:g.14563G>C
SLC17A5 RefSeqGene NG_008272.1:g.14563G>A
Gene: SLC17A5, solute carrier family 17 member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC17A5 transcript variant 2 NM_001382629.1:c.61-2528G…

NM_001382629.1:c.61-2528G>T

N/A Intron Variant
SLC17A5 transcript variant 9 NM_001382636.1:c.61-2528G…

NM_001382636.1:c.61-2528G>T

N/A Intron Variant
SLC17A5 transcript variant 1 NM_012434.5:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 1 NP_036566.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 1 NM_012434.5:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 1 NP_036566.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 1 NM_012434.5:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 1 NP_036566.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 4 NM_001382631.1:c.267G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 4 NP_001369560.1:p.Ala89= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 4 NM_001382631.1:c.267G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 4 NP_001369560.1:p.Ala89= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 4 NM_001382631.1:c.267G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 4 NP_001369560.1:p.Ala89= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 3 NM_001382630.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 3 NP_001369559.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 3 NM_001382630.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 3 NP_001369559.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 3 NM_001382630.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 3 NP_001369559.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 7 NM_001382634.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 7 NP_001369563.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 7 NM_001382634.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 7 NP_001369563.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 7 NM_001382634.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 7 NP_001369563.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 8 NM_001382635.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 8 NP_001369564.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 8 NM_001382635.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 8 NP_001369564.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 8 NM_001382635.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 8 NP_001369564.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 5 NM_001382632.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 5 NP_001369561.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 5 NM_001382632.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 5 NP_001369561.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 5 NM_001382632.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 5 NP_001369561.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 6 NM_001382633.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform 6 NP_001369562.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 6 NM_001382633.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform 6 NP_001369562.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant 6 NM_001382633.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform 6 NP_001369562.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant X2 XM_047418631.1:c. N/A Genic Upstream Transcript Variant
SLC17A5 transcript variant X1 XM_047418630.1:c.246G>T A [GCG] > A [GCT] Coding Sequence Variant
sialin isoform X1 XP_047274586.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant X1 XM_047418630.1:c.246G>C A [GCG] > A [GCC] Coding Sequence Variant
sialin isoform X1 XP_047274586.1:p.Ala82= A (Ala) > A (Ala) Synonymous Variant
SLC17A5 transcript variant X1 XM_047418630.1:c.246G>A A [GCG] > A [GCA] Coding Sequence Variant
sialin isoform X1 XP_047274586.1:p.Ala82= A (Ala) > A (Ala) 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.

Allele: T (allele ID: 135763 )
ClinVar Accession Disease Names Clinical Significance
RCV000118354.15 not specified Benign
RCV000297962.11 Salla disease Benign
RCV000590335.3 not provided Benign
RCV001095271.5 Sialic acid storage disease, severe infantile type 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 C= A G T
GRCh38.p14 chr 6 NC_000006.12:g.73644452= NC_000006.12:g.73644452C>A NC_000006.12:g.73644452C>G NC_000006.12:g.73644452C>T
GRCh37.p13 chr 6 NC_000006.11:g.74354175= NC_000006.11:g.74354175C>A NC_000006.11:g.74354175C>G NC_000006.11:g.74354175C>T
SLC17A5 RefSeqGene NG_008272.1:g.14563= NG_008272.1:g.14563G>T NG_008272.1:g.14563G>C NG_008272.1:g.14563G>A
SLC17A5 transcript variant 1 NM_012434.5:c.246= NM_012434.5:c.246G>T NM_012434.5:c.246G>C NM_012434.5:c.246G>A
SLC17A5 transcript NM_012434.4:c.246= NM_012434.4:c.246G>T NM_012434.4:c.246G>C NM_012434.4:c.246G>A
SLC17A5 transcript variant 6 NM_001382633.1:c.246= NM_001382633.1:c.246G>T NM_001382633.1:c.246G>C NM_001382633.1:c.246G>A
SLC17A5 transcript variant 4 NM_001382631.1:c.267= NM_001382631.1:c.267G>T NM_001382631.1:c.267G>C NM_001382631.1:c.267G>A
SLC17A5 transcript variant 8 NM_001382635.1:c.246= NM_001382635.1:c.246G>T NM_001382635.1:c.246G>C NM_001382635.1:c.246G>A
SLC17A5 transcript variant 5 NM_001382632.1:c.246= NM_001382632.1:c.246G>T NM_001382632.1:c.246G>C NM_001382632.1:c.246G>A
SLC17A5 transcript variant 3 NM_001382630.1:c.246= NM_001382630.1:c.246G>T NM_001382630.1:c.246G>C NM_001382630.1:c.246G>A
SLC17A5 transcript variant 7 NM_001382634.1:c.246= NM_001382634.1:c.246G>T NM_001382634.1:c.246G>C NM_001382634.1:c.246G>A
SLC17A5 transcript variant X1 XM_047418630.1:c.246= XM_047418630.1:c.246G>T XM_047418630.1:c.246G>C XM_047418630.1:c.246G>A
sialin isoform 1 NP_036566.1:p.Ala82= NP_036566.1:p.Ala82= NP_036566.1:p.Ala82= NP_036566.1:p.Ala82=
sialin isoform 6 NP_001369562.1:p.Ala82= NP_001369562.1:p.Ala82= NP_001369562.1:p.Ala82= NP_001369562.1:p.Ala82=
sialin isoform 4 NP_001369560.1:p.Ala89= NP_001369560.1:p.Ala89= NP_001369560.1:p.Ala89= NP_001369560.1:p.Ala89=
sialin isoform 8 NP_001369564.1:p.Ala82= NP_001369564.1:p.Ala82= NP_001369564.1:p.Ala82= NP_001369564.1:p.Ala82=
sialin isoform 5 NP_001369561.1:p.Ala82= NP_001369561.1:p.Ala82= NP_001369561.1:p.Ala82= NP_001369561.1:p.Ala82=
sialin isoform 3 NP_001369559.1:p.Ala82= NP_001369559.1:p.Ala82= NP_001369559.1:p.Ala82= NP_001369559.1:p.Ala82=
sialin isoform 7 NP_001369563.1:p.Ala82= NP_001369563.1:p.Ala82= NP_001369563.1:p.Ala82= NP_001369563.1:p.Ala82=
sialin isoform X1 XP_047274586.1:p.Ala82= XP_047274586.1:p.Ala82= XP_047274586.1:p.Ala82= XP_047274586.1:p.Ala82=
SLC17A5 transcript variant 2 NM_001382629.1:c.61-2528= NM_001382629.1:c.61-2528G>T NM_001382629.1:c.61-2528G>C NM_001382629.1:c.61-2528G>A
SLC17A5 transcript variant 9 NM_001382636.1:c.61-2528= NM_001382636.1:c.61-2528G>T NM_001382636.1:c.61-2528G>C NM_001382636.1:c.61-2528G>A
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#.

152 SubSNP, 28 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss641662 Aug 11, 2000 (83)
2 KWOK ss913260 Oct 04, 2000 (86)
3 KWOK ss913863 Oct 04, 2000 (86)
4 TSC-CSHL ss1339956 Oct 08, 2002 (108)
5 KWOK ss1882966 Oct 18, 2000 (87)
6 KWOK ss1883088 Oct 18, 2000 (87)
7 YUSUKE ss4985675 Aug 28, 2002 (108)
8 TSC-CSHL ss5383222 Oct 08, 2002 (108)
9 WI_SSAHASNP ss11815174 Jul 11, 2003 (116)
10 CGAP-GAI ss16251760 Feb 27, 2004 (120)
11 PERLEGEN ss23379234 Sep 20, 2004 (123)
12 SEQUENOM ss24811563 Sep 20, 2004 (123)
13 MGC_GENOME_DIFF ss28498013 Sep 24, 2004 (126)
14 MGC_GENOME_DIFF ss28512861 Sep 24, 2004 (126)
15 APPLERA_GI ss48420821 Mar 10, 2006 (126)
16 ILLUMINA ss67365080 Dec 01, 2006 (127)
17 ILLUMINA ss67750208 Dec 01, 2006 (127)
18 ILLUMINA ss68234478 Dec 12, 2006 (127)
19 ILLUMINA ss70819147 May 23, 2008 (130)
20 ILLUMINA ss71400417 May 17, 2007 (127)
21 ILLUMINA ss75725255 Dec 06, 2007 (129)
22 HGSV ss83108502 Dec 14, 2007 (130)
23 KRIBB_YJKIM ss83460624 Dec 14, 2007 (130)
24 BGI ss104326917 Dec 01, 2009 (131)
25 1000GENOMES ss114566914 Jan 25, 2009 (130)
26 ILLUMINA ss154311049 Dec 01, 2009 (131)
27 GMI ss157145779 Dec 01, 2009 (131)
28 ILLUMINA ss159487761 Dec 01, 2009 (131)
29 SEATTLESEQ ss159713004 Dec 01, 2009 (131)
30 ILLUMINA ss160702928 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss163726650 Jul 04, 2010 (132)
32 ILLUMINA ss173790714 Jul 04, 2010 (132)
33 BUSHMAN ss202019713 Jul 04, 2010 (132)
34 ILLUMINA ss209090154 Jul 04, 2010 (132)
35 1000GENOMES ss222471298 Jul 14, 2010 (132)
36 1000GENOMES ss233535412 Jul 15, 2010 (132)
37 1000GENOMES ss240577806 Jul 15, 2010 (132)
38 GMI ss278867166 May 04, 2012 (137)
39 GMI ss285439477 Apr 25, 2013 (138)
40 PJP ss293636045 May 09, 2011 (134)
41 NHLBI-ESP ss342216745 May 09, 2011 (134)
42 ILLUMINA ss481018947 May 04, 2012 (137)
43 ILLUMINA ss481039916 May 04, 2012 (137)
44 ILLUMINA ss482026064 Sep 08, 2015 (146)
45 ILLUMINA ss485304463 May 04, 2012 (137)
46 1000GENOMES ss490929170 May 04, 2012 (137)
47 CLINSEQ_SNP ss491892644 May 04, 2012 (137)
48 ILLUMINA ss537263979 Sep 08, 2015 (146)
49 TISHKOFF ss559293199 Apr 25, 2013 (138)
50 SSMP ss653251218 Apr 25, 2013 (138)
51 ILLUMINA ss778544066 Sep 08, 2015 (146)
52 ILLUMINA ss783098072 Aug 21, 2014 (142)
53 ILLUMINA ss784055362 Sep 08, 2015 (146)
54 ILLUMINA ss832356618 Apr 01, 2015 (144)
55 ILLUMINA ss832999173 Aug 21, 2014 (142)
56 ILLUMINA ss833590002 Aug 21, 2014 (142)
57 ILLUMINA ss834000723 Sep 08, 2015 (146)
58 JMKIDD_LAB ss974461113 Aug 21, 2014 (142)
59 EVA-GONL ss983094944 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1067480862 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1073732289 Aug 21, 2014 (142)
62 1000GENOMES ss1320738970 Aug 21, 2014 (142)
63 CLINVAR ss1457615328 Nov 23, 2014 (142)
64 EVA_GENOME_DK ss1581739070 Apr 01, 2015 (144)
65 EVA_FINRISK ss1584047737 Apr 01, 2015 (144)
66 EVA_DECODE ss1592638124 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1615884561 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1658878594 Apr 01, 2015 (144)
69 EVA_EXAC ss1688396220 Apr 01, 2015 (144)
70 EVA_MGP ss1711135690 Apr 01, 2015 (144)
71 EVA_SVP ss1712873094 Apr 01, 2015 (144)
72 ILLUMINA ss1752647092 Sep 08, 2015 (146)
73 WEILL_CORNELL_DGM ss1926351181 Feb 12, 2016 (147)
74 ILLUMINA ss1946183067 Feb 12, 2016 (147)
75 ILLUMINA ss1958924738 Feb 12, 2016 (147)
76 GENOMED ss1970434684 Jul 19, 2016 (147)
77 JJLAB ss2023818197 Sep 14, 2016 (149)
78 USC_VALOUEV ss2152010353 Dec 20, 2016 (150)
79 HUMAN_LONGEVITY ss2285141417 Dec 20, 2016 (150)
80 ILLUMINA ss2634468548 Nov 08, 2017 (151)
81 GRF ss2707619493 Nov 08, 2017 (151)
82 ILLUMINA ss2711081752 Nov 08, 2017 (151)
83 GNOMAD ss2735905939 Nov 08, 2017 (151)
84 GNOMAD ss2747658230 Nov 08, 2017 (151)
85 GNOMAD ss2840700637 Nov 08, 2017 (151)
86 SWEGEN ss2999329987 Nov 08, 2017 (151)
87 ILLUMINA ss3022636992 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3025702317 Nov 08, 2017 (151)
89 CSHL ss3347050213 Nov 08, 2017 (151)
90 ILLUMINA ss3625905583 Oct 12, 2018 (152)
91 ILLUMINA ss3629577568 Oct 12, 2018 (152)
92 ILLUMINA ss3632384000 Oct 12, 2018 (152)
93 ILLUMINA ss3633426230 Oct 12, 2018 (152)
94 ILLUMINA ss3634149326 Oct 12, 2018 (152)
95 ILLUMINA ss3635073605 Oct 12, 2018 (152)
96 ILLUMINA ss3635830069 Oct 12, 2018 (152)
97 ILLUMINA ss3636797091 Oct 12, 2018 (152)
98 ILLUMINA ss3637582894 Oct 12, 2018 (152)
99 ILLUMINA ss3638637913 Oct 12, 2018 (152)
100 ILLUMINA ss3639319431 Oct 12, 2018 (152)
101 ILLUMINA ss3639955368 Oct 12, 2018 (152)
102 ILLUMINA ss3640780905 Oct 12, 2018 (152)
103 ILLUMINA ss3643578430 Oct 12, 2018 (152)
104 ILLUMINA ss3644000217 Oct 12, 2018 (152)
105 ILLUMINA ss3644916128 Oct 12, 2018 (152)
106 OMUKHERJEE_ADBS ss3646341137 Oct 12, 2018 (152)
107 ILLUMINA ss3653154398 Oct 12, 2018 (152)
108 EGCUT_WGS ss3667200022 Jul 13, 2019 (153)
109 EVA_DECODE ss3717517409 Jul 13, 2019 (153)
110 ILLUMINA ss3726357415 Jul 13, 2019 (153)
111 ACPOP ss3733644336 Jul 13, 2019 (153)
112 ILLUMINA ss3744273580 Jul 13, 2019 (153)
113 ILLUMINA ss3745373534 Jul 13, 2019 (153)
114 EVA ss3765202533 Jul 13, 2019 (153)
115 PAGE_CC ss3771302183 Jul 13, 2019 (153)
116 ILLUMINA ss3772867040 Jul 13, 2019 (153)
117 KHV_HUMAN_GENOMES ss3808350976 Jul 13, 2019 (153)
118 EVA ss3824204171 Apr 26, 2020 (154)
119 EVA ss3825702638 Apr 26, 2020 (154)
120 EVA ss3830004525 Apr 26, 2020 (154)
121 HGDP ss3847838531 Apr 26, 2020 (154)
122 SGDP_PRJ ss3864901759 Apr 26, 2020 (154)
123 KRGDB ss3911772182 Apr 26, 2020 (154)
124 FSA-LAB ss3984342441 Apr 26, 2021 (155)
125 FSA-LAB ss3984342442 Apr 26, 2021 (155)
126 EVA ss3984571255 Apr 26, 2021 (155)
127 EVA ss3985230634 Apr 26, 2021 (155)
128 EVA ss3986351133 Apr 26, 2021 (155)
129 TOPMED ss4708313327 Apr 26, 2021 (155)
130 TOMMO_GENOMICS ss5178191554 Apr 26, 2021 (155)
131 EVA ss5237026047 Apr 26, 2021 (155)
132 EVA ss5237647203 Oct 17, 2022 (156)
133 1000G_HIGH_COVERAGE ss5268993923 Oct 17, 2022 (156)
134 TRAN_CS_UWATERLOO ss5314417096 Oct 17, 2022 (156)
135 EVA ss5315165533 Oct 17, 2022 (156)
136 EVA ss5366578126 Oct 17, 2022 (156)
137 HUGCELL_USP ss5466582275 Oct 17, 2022 (156)
138 EVA ss5508558440 Oct 17, 2022 (156)
139 1000G_HIGH_COVERAGE ss5555205671 Oct 17, 2022 (156)
140 EVA ss5623937568 Oct 17, 2022 (156)
141 EVA ss5624158441 Oct 17, 2022 (156)
142 SANFORD_IMAGENETICS ss5640712882 Oct 17, 2022 (156)
143 TOMMO_GENOMICS ss5716576848 Oct 17, 2022 (156)
144 EVA ss5799692683 Oct 17, 2022 (156)
145 YY_MCH ss5807615879 Oct 17, 2022 (156)
146 EVA ss5842465945 Oct 17, 2022 (156)
147 EVA ss5848102283 Oct 17, 2022 (156)
148 EVA ss5848662438 Oct 17, 2022 (156)
149 EVA ss5855418787 Oct 17, 2022 (156)
150 EVA ss5884413455 Oct 17, 2022 (156)
151 EVA ss5936532553 Oct 17, 2022 (156)
152 EVA ss5969208692 Oct 17, 2022 (156)
153 1000Genomes NC_000006.11 - 74354175 Oct 12, 2018 (152)
154 1000Genomes_30x NC_000006.12 - 73644452 Oct 17, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 74354175 Oct 12, 2018 (152)
156 Genetic variation in the Estonian population NC_000006.11 - 74354175 Oct 12, 2018 (152)
157 ExAC NC_000006.11 - 74354175 Oct 12, 2018 (152)
158 FINRISK NC_000006.11 - 74354175 Apr 26, 2020 (154)
159 The Danish reference pan genome NC_000006.11 - 74354175 Apr 26, 2020 (154)
160 gnomAD - Genomes NC_000006.12 - 73644452 Apr 26, 2021 (155)
161 gnomAD - Exomes NC_000006.11 - 74354175 Jul 13, 2019 (153)
162 GO Exome Sequencing Project NC_000006.11 - 74354175 Oct 12, 2018 (152)
163 Genome of the Netherlands Release 5 NC_000006.11 - 74354175 Apr 26, 2020 (154)
164 HGDP-CEPH-db Supplement 1 NC_000006.10 - 74410896 Apr 26, 2020 (154)
165 HapMap NC_000006.12 - 73644452 Apr 26, 2020 (154)
166 KOREAN population from KRGDB NC_000006.11 - 74354175 Apr 26, 2020 (154)
167 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 74354175 Apr 26, 2020 (154)
168 Northern Sweden NC_000006.11 - 74354175 Jul 13, 2019 (153)
169 The PAGE Study NC_000006.12 - 73644452 Jul 13, 2019 (153)
170 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 74354175 Apr 26, 2021 (155)
171 CNV burdens in cranial meningiomas NC_000006.11 - 74354175 Apr 26, 2021 (155)
172 Qatari NC_000006.11 - 74354175 Apr 26, 2020 (154)
173 SGDP_PRJ NC_000006.11 - 74354175 Apr 26, 2020 (154)
174 Siberian NC_000006.11 - 74354175 Apr 26, 2020 (154)
175 8.3KJPN NC_000006.11 - 74354175 Apr 26, 2021 (155)
176 14KJPN NC_000006.12 - 73644452 Oct 17, 2022 (156)
177 TopMed NC_000006.12 - 73644452 Apr 26, 2021 (155)
178 UK 10K study - Twins NC_000006.11 - 74354175 Oct 12, 2018 (152)
179 A Vietnamese Genetic Variation Database NC_000006.11 - 74354175 Jul 13, 2019 (153)
180 ALFA NC_000006.12 - 73644452 Apr 26, 2021 (155)
181 ClinVar RCV000118354.15 Oct 17, 2022 (156)
182 ClinVar RCV000297962.11 Oct 17, 2022 (156)
183 ClinVar RCV000590335.3 Oct 17, 2022 (156)
184 ClinVar RCV001095271.5 Oct 17, 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)
rs3799292 Oct 08, 2002 (108)
rs17845628 Mar 10, 2006 (126)
rs17858559 Mar 10, 2006 (126)
rs57554277 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss24811563 NT_007299.13:12474008:C:A NC_000006.12:73644451:C:A (self)
ss24811563 NT_007299.13:12474008:C:G NC_000006.12:73644451:C:G (self)
ss83108502, ss3639319431, ss3639955368, ss3644000217 NC_000006.9:74410895:C:T NC_000006.12:73644451:C:T (self)
516423, ss114566914, ss163726650, ss202019713, ss278867166, ss285439477, ss293636045, ss481018947, ss491892644, ss1592638124, ss1712873094, ss3643578430, ss3847838531 NC_000006.10:74410895:C:T NC_000006.12:73644451:C:T (self)
32549405, 18135343, 12938270, 8434165, 44198, 7904009, 5052969, 662176, 8079757, 18949576, 251450, 6929201, 456561, 120664, 8393111, 16918739, 4526707, 36160861, 18135343, 4028758, ss222471298, ss233535412, ss240577806, ss342216745, ss481039916, ss482026064, ss485304463, ss490929170, ss537263979, ss559293199, ss653251218, ss778544066, ss783098072, ss784055362, ss832356618, ss832999173, ss833590002, ss834000723, ss974461113, ss983094944, ss1067480862, ss1073732289, ss1320738970, ss1581739070, ss1584047737, ss1615884561, ss1658878594, ss1688396220, ss1711135690, ss1752647092, ss1926351181, ss1946183067, ss1958924738, ss1970434684, ss2023818197, ss2152010353, ss2634468548, ss2707619493, ss2711081752, ss2735905939, ss2747658230, ss2840700637, ss2999329987, ss3022636992, ss3347050213, ss3625905583, ss3629577568, ss3632384000, ss3633426230, ss3634149326, ss3635073605, ss3635830069, ss3636797091, ss3637582894, ss3638637913, ss3640780905, ss3644916128, ss3646341137, ss3653154398, ss3667200022, ss3733644336, ss3744273580, ss3745373534, ss3765202533, ss3772867040, ss3824204171, ss3825702638, ss3830004525, ss3864901759, ss3911772182, ss3984342441, ss3984342442, ss3984571255, ss3985230634, ss3986351133, ss5178191554, ss5315165533, ss5366578126, ss5508558440, ss5623937568, ss5624158441, ss5640712882, ss5799692683, ss5842465945, ss5848102283, ss5848662438, ss5936532553, ss5969208692 NC_000006.11:74354174:C:T NC_000006.12:73644451:C:T (self)
RCV000118354.15, RCV000297962.11, RCV000590335.3, RCV001095271.5, 42731606, 229730893, 3164565, 523652, 50413952, 545690885, 2951490029, ss1457615328, ss2285141417, ss3025702317, ss3717517409, ss3726357415, ss3771302183, ss3808350976, ss4708313327, ss5237026047, ss5237647203, ss5268993923, ss5314417096, ss5466582275, ss5555205671, ss5716576848, ss5807615879, ss5855418787, ss5884413455 NC_000006.12:73644451:C:T NC_000006.12:73644451:C:T (self)
ss11815174 NT_007299.12:12174347:C:T NC_000006.12:73644451:C:T (self)
ss641662, ss913260, ss913863, ss1339956, ss1882966, ss1883088, ss4985675, ss5383222, ss16251760, ss23379234, ss28498013, ss28512861, ss48420821, ss67365080, ss67750208, ss68234478, ss70819147, ss71400417, ss75725255, ss83460624, ss104326917, ss154311049, ss157145779, ss159487761, ss159713004, ss160702928, ss173790714, ss209090154 NT_007299.13:12474008:C:T NC_000006.12:73644451: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 rs472294
PMID Title Author Year Journal
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