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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.

rs3816926

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:27423689 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.143704 (38037/264690, TOPMED)
A=0.12253 (9472/77306, ALFA)
A=0.07152 (2021/28258, 14KJPN) (+ 15 more)
A=0.06820 (1143/16760, 8.3KJPN)
A=0.1112 (712/6404, 1000G_30x)
A=0.1112 (557/5008, 1000G)
A=0.1132 (507/4480, Estonian)
A=0.1365 (526/3854, ALSPAC)
A=0.1400 (519/3708, TWINSUK)
A=0.0590 (173/2930, KOREAN)
A=0.155 (155/998, GoNL)
A=0.118 (71/600, NorthernSweden)
A=0.106 (33/312, HapMap)
A=0.213 (46/216, Qatari)
A=0.071 (15/212, Vietnamese)
G=0.473 (52/110, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
G=0.33 (4/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC4A7 : Intron Variant
Publications
0 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 77306 G=0.87747 A=0.12253, C=0.00000, T=0.00000
European Sub 65892 G=0.86831 A=0.13169, C=0.00000, T=0.00000
African Sub 3504 G=0.9326 A=0.0674, C=0.0000, T=0.0000
African Others Sub 126 G=0.944 A=0.056, C=0.000, T=0.000
African American Sub 3378 G=0.9322 A=0.0678, C=0.0000, T=0.0000
Asian Sub 218 G=0.968 A=0.032, C=0.000, T=0.000
East Asian Sub 176 G=0.966 A=0.034, C=0.000, T=0.000
Other Asian Sub 42 G=0.98 A=0.02, C=0.00, T=0.00
Latin American 1 Sub 200 G=0.915 A=0.085, C=0.000, T=0.000
Latin American 2 Sub 1054 G=0.9402 A=0.0598, C=0.0000, T=0.0000
South Asian Sub 4936 G=0.9352 A=0.0648, C=0.0000, T=0.0000
Other Sub 1502 G=0.8988 A=0.1012, C=0.0000, T=0.0000


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
TopMed Global Study-wide 264690 G=0.856296 A=0.143704
Allele Frequency Aggregator Total Global 77306 G=0.87747 A=0.12253, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 65892 G=0.86831 A=0.13169, C=0.00000, T=0.00000
Allele Frequency Aggregator South Asian Sub 4936 G=0.9352 A=0.0648, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 3504 G=0.9326 A=0.0674, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 1502 G=0.8988 A=0.1012, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1054 G=0.9402 A=0.0598, C=0.0000, T=0.0000
Allele Frequency Aggregator Asian Sub 218 G=0.968 A=0.032, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 200 G=0.915 A=0.085, C=0.000, T=0.000
14KJPN JAPANESE Study-wide 28258 G=0.92848 A=0.07152
8.3KJPN JAPANESE Study-wide 16760 G=0.93180 A=0.06820
1000Genomes_30x Global Study-wide 6404 G=0.8888 A=0.1112
1000Genomes_30x African Sub 1786 G=0.8466 A=0.1534
1000Genomes_30x Europe Sub 1266 G=0.8333 A=0.1667
1000Genomes_30x South Asian Sub 1202 G=0.9476 A=0.0524
1000Genomes_30x East Asian Sub 1170 G=0.9530 A=0.0470
1000Genomes_30x American Sub 980 G=0.889 A=0.111
1000Genomes Global Study-wide 5008 G=0.8888 A=0.1112
1000Genomes African Sub 1322 G=0.8449 A=0.1551
1000Genomes East Asian Sub 1008 G=0.9554 A=0.0446
1000Genomes Europe Sub 1006 G=0.8290 A=0.1710
1000Genomes South Asian Sub 978 G=0.944 A=0.056
1000Genomes American Sub 694 G=0.885 A=0.115
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8868 A=0.1132
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8635 A=0.1365
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8600 A=0.1400
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9410 A=0.0590
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.845 A=0.155
Northern Sweden ACPOP Study-wide 600 G=0.882 A=0.118
HapMap Global Study-wide 312 G=0.894 A=0.106
HapMap American Sub 120 G=0.883 A=0.117
HapMap African Sub 104 G=0.885 A=0.115
HapMap Asian Sub 88 G=0.92 A=0.08
Qatari Global Study-wide 216 G=0.787 A=0.213
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.929 A=0.071
SGDP_PRJ Global Study-wide 110 G=0.473 A=0.527
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 12 G=0.33 A=0.67
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 3 NC_000003.12:g.27423689G>A
GRCh38.p14 chr 3 NC_000003.12:g.27423689G>C
GRCh38.p14 chr 3 NC_000003.12:g.27423689G>T
GRCh37.p13 chr 3 NC_000003.11:g.27465180G>A
GRCh37.p13 chr 3 NC_000003.11:g.27465180G>C
GRCh37.p13 chr 3 NC_000003.11:g.27465180G>T
SLC4A7 RefSeqGene NG_032673.1:g.65732C>T
SLC4A7 RefSeqGene NG_032673.1:g.65732C>G
SLC4A7 RefSeqGene NG_032673.1:g.65732C>A
Gene: SLC4A7, solute carrier family 4 member 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC4A7 transcript variant 2 NM_001258379.2:c.882+348C…

NM_001258379.2:c.882+348C>T

N/A Intron Variant
SLC4A7 transcript variant 3 NM_001258380.2:c.867+348C…

NM_001258380.2:c.867+348C>T

N/A Intron Variant
SLC4A7 transcript variant 4 NM_001321103.2:c.1266+348…

NM_001321103.2:c.1266+348C>T

N/A Intron Variant
SLC4A7 transcript variant 5 NM_001321104.2:c.1227+348…

NM_001321104.2:c.1227+348C>T

N/A Intron Variant
SLC4A7 transcript variant 6 NM_001321105.2:c.1227+348…

NM_001321105.2:c.1227+348C>T

N/A Intron Variant
SLC4A7 transcript variant 7 NM_001321106.2:c.1215+348…

NM_001321106.2:c.1215+348C>T

N/A Intron Variant
SLC4A7 transcript variant 8 NM_001321107.2:c.882+348C…

NM_001321107.2:c.882+348C>T

N/A Intron Variant
SLC4A7 transcript variant 9 NM_001321108.2:c.894+348C…

NM_001321108.2:c.894+348C>T

N/A Intron Variant
SLC4A7 transcript variant 1 NM_003615.5:c.1239+348C>T N/A Intron Variant
SLC4A7 transcript variant 10 NR_135541.2:n. N/A Intron Variant
SLC4A7 transcript variant 11 NR_135542.2:n. N/A Intron Variant
SLC4A7 transcript variant 12 NR_135543.2:n. N/A Intron Variant
SLC4A7 transcript variant 13 NR_135544.2:n. N/A Intron Variant
SLC4A7 transcript variant X7 XM_005265598.6:c.867+348C…

XM_005265598.6:c.867+348C>T

N/A Intron Variant
SLC4A7 transcript variant X10 XM_005265600.6:c.828+348C…

XM_005265600.6:c.828+348C>T

N/A Intron Variant
SLC4A7 transcript variant X1 XM_006713421.4:c.1254+348…

XM_006713421.4:c.1254+348C>T

N/A Intron Variant
SLC4A7 transcript variant X2 XM_011534256.4:c.1239+348…

XM_011534256.4:c.1239+348C>T

N/A Intron Variant
SLC4A7 transcript variant X4 XM_011534258.3:c.1266+348…

XM_011534258.3:c.1266+348C>T

N/A Intron Variant
SLC4A7 transcript variant X5 XM_011534261.4:c.1200+348…

XM_011534261.4:c.1200+348C>T

N/A Intron Variant
SLC4A7 transcript variant X8 XM_011534263.4:c.855+348C…

XM_011534263.4:c.855+348C>T

N/A Intron Variant
SLC4A7 transcript variant X11 XM_011534265.3:c.894+348C…

XM_011534265.3:c.894+348C>T

N/A Intron Variant
SLC4A7 transcript variant X9 XM_017007527.3:c.843+348C…

XM_017007527.3:c.843+348C>T

N/A Intron Variant
SLC4A7 transcript variant X12 XM_017007528.1:c.47+348C>T N/A Intron Variant
SLC4A7 transcript variant X13 XM_017007529.1:c.47+348C>T N/A Intron Variant
SLC4A7 transcript variant X3 XM_047449246.1:c.1215+348…

XM_047449246.1:c.1215+348C>T

N/A Intron Variant
SLC4A7 transcript variant X6 XM_047449247.1:c.894+348C…

XM_047449247.1:c.894+348C>T

N/A Intron Variant
SLC4A7 transcript variant X14 XM_047449248.1:c.894+348C…

XM_047449248.1:c.894+348C>T

N/A Intron 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 G= A C T
GRCh38.p14 chr 3 NC_000003.12:g.27423689= NC_000003.12:g.27423689G>A NC_000003.12:g.27423689G>C NC_000003.12:g.27423689G>T
GRCh37.p13 chr 3 NC_000003.11:g.27465180= NC_000003.11:g.27465180G>A NC_000003.11:g.27465180G>C NC_000003.11:g.27465180G>T
SLC4A7 RefSeqGene NG_032673.1:g.65732= NG_032673.1:g.65732C>T NG_032673.1:g.65732C>G NG_032673.1:g.65732C>A
SLC4A7 transcript variant 2 NM_001258379.1:c.882+348= NM_001258379.1:c.882+348C>T NM_001258379.1:c.882+348C>G NM_001258379.1:c.882+348C>A
SLC4A7 transcript variant 2 NM_001258379.2:c.882+348= NM_001258379.2:c.882+348C>T NM_001258379.2:c.882+348C>G NM_001258379.2:c.882+348C>A
SLC4A7 transcript variant 3 NM_001258380.1:c.867+348= NM_001258380.1:c.867+348C>T NM_001258380.1:c.867+348C>G NM_001258380.1:c.867+348C>A
SLC4A7 transcript variant 3 NM_001258380.2:c.867+348= NM_001258380.2:c.867+348C>T NM_001258380.2:c.867+348C>G NM_001258380.2:c.867+348C>A
SLC4A7 transcript variant 4 NM_001321103.2:c.1266+348= NM_001321103.2:c.1266+348C>T NM_001321103.2:c.1266+348C>G NM_001321103.2:c.1266+348C>A
SLC4A7 transcript variant 5 NM_001321104.2:c.1227+348= NM_001321104.2:c.1227+348C>T NM_001321104.2:c.1227+348C>G NM_001321104.2:c.1227+348C>A
SLC4A7 transcript variant 6 NM_001321105.2:c.1227+348= NM_001321105.2:c.1227+348C>T NM_001321105.2:c.1227+348C>G NM_001321105.2:c.1227+348C>A
SLC4A7 transcript variant 7 NM_001321106.2:c.1215+348= NM_001321106.2:c.1215+348C>T NM_001321106.2:c.1215+348C>G NM_001321106.2:c.1215+348C>A
SLC4A7 transcript variant 8 NM_001321107.2:c.882+348= NM_001321107.2:c.882+348C>T NM_001321107.2:c.882+348C>G NM_001321107.2:c.882+348C>A
SLC4A7 transcript variant 9 NM_001321108.2:c.894+348= NM_001321108.2:c.894+348C>T NM_001321108.2:c.894+348C>G NM_001321108.2:c.894+348C>A
SLC4A7 transcript variant 1 NM_003615.4:c.1239+348= NM_003615.4:c.1239+348C>T NM_003615.4:c.1239+348C>G NM_003615.4:c.1239+348C>A
SLC4A7 transcript variant 1 NM_003615.5:c.1239+348= NM_003615.5:c.1239+348C>T NM_003615.5:c.1239+348C>G NM_003615.5:c.1239+348C>A
SLC4A7 transcript variant X1 XM_005265592.1:c.1266+348= XM_005265592.1:c.1266+348C>T XM_005265592.1:c.1266+348C>G XM_005265592.1:c.1266+348C>A
SLC4A7 transcript variant X2 XM_005265593.1:c.1227+348= XM_005265593.1:c.1227+348C>T XM_005265593.1:c.1227+348C>G XM_005265593.1:c.1227+348C>A
SLC4A7 transcript variant X3 XM_005265594.1:c.1227+348= XM_005265594.1:c.1227+348C>T XM_005265594.1:c.1227+348C>G XM_005265594.1:c.1227+348C>A
SLC4A7 transcript variant X4 XM_005265595.1:c.1215+348= XM_005265595.1:c.1215+348C>T XM_005265595.1:c.1215+348C>G XM_005265595.1:c.1215+348C>A
SLC4A7 transcript variant X5 XM_005265596.1:c.1200+348= XM_005265596.1:c.1200+348C>T XM_005265596.1:c.1200+348C>G XM_005265596.1:c.1200+348C>A
SLC4A7 transcript variant X6 XM_005265597.1:c.894+348= XM_005265597.1:c.894+348C>T XM_005265597.1:c.894+348C>G XM_005265597.1:c.894+348C>A
SLC4A7 transcript variant X7 XM_005265598.1:c.867+348= XM_005265598.1:c.867+348C>T XM_005265598.1:c.867+348C>G XM_005265598.1:c.867+348C>A
SLC4A7 transcript variant X7 XM_005265598.6:c.867+348= XM_005265598.6:c.867+348C>T XM_005265598.6:c.867+348C>G XM_005265598.6:c.867+348C>A
SLC4A7 transcript variant X8 XM_005265599.1:c.843+348= XM_005265599.1:c.843+348C>T XM_005265599.1:c.843+348C>G XM_005265599.1:c.843+348C>A
SLC4A7 transcript variant X9 XM_005265600.1:c.828+348= XM_005265600.1:c.828+348C>T XM_005265600.1:c.828+348C>G XM_005265600.1:c.828+348C>A
SLC4A7 transcript variant X10 XM_005265600.6:c.828+348= XM_005265600.6:c.828+348C>T XM_005265600.6:c.828+348C>G XM_005265600.6:c.828+348C>A
SLC4A7 transcript variant X15 XM_005265601.1:c.882+348= XM_005265601.1:c.882+348C>T XM_005265601.1:c.882+348C>G XM_005265601.1:c.882+348C>A
SLC4A7 transcript variant X11 XM_005265602.1:c.119+348= XM_005265602.1:c.119+348C>T XM_005265602.1:c.119+348C>G XM_005265602.1:c.119+348C>A
SLC4A7 transcript variant X12 XM_005265603.1:c.47+348= XM_005265603.1:c.47+348C>T XM_005265603.1:c.47+348C>G XM_005265603.1:c.47+348C>A
SLC4A7 transcript variant X1 XM_006713421.4:c.1254+348= XM_006713421.4:c.1254+348C>T XM_006713421.4:c.1254+348C>G XM_006713421.4:c.1254+348C>A
SLC4A7 transcript variant X2 XM_011534256.4:c.1239+348= XM_011534256.4:c.1239+348C>T XM_011534256.4:c.1239+348C>G XM_011534256.4:c.1239+348C>A
SLC4A7 transcript variant X4 XM_011534258.3:c.1266+348= XM_011534258.3:c.1266+348C>T XM_011534258.3:c.1266+348C>G XM_011534258.3:c.1266+348C>A
SLC4A7 transcript variant X5 XM_011534261.4:c.1200+348= XM_011534261.4:c.1200+348C>T XM_011534261.4:c.1200+348C>G XM_011534261.4:c.1200+348C>A
SLC4A7 transcript variant X8 XM_011534263.4:c.855+348= XM_011534263.4:c.855+348C>T XM_011534263.4:c.855+348C>G XM_011534263.4:c.855+348C>A
SLC4A7 transcript variant X11 XM_011534265.3:c.894+348= XM_011534265.3:c.894+348C>T XM_011534265.3:c.894+348C>G XM_011534265.3:c.894+348C>A
SLC4A7 transcript variant X9 XM_017007527.3:c.843+348= XM_017007527.3:c.843+348C>T XM_017007527.3:c.843+348C>G XM_017007527.3:c.843+348C>A
SLC4A7 transcript variant X12 XM_017007528.1:c.47+348= XM_017007528.1:c.47+348C>T XM_017007528.1:c.47+348C>G XM_017007528.1:c.47+348C>A
SLC4A7 transcript variant X13 XM_017007529.1:c.47+348= XM_017007529.1:c.47+348C>T XM_017007529.1:c.47+348C>G XM_017007529.1:c.47+348C>A
SLC4A7 transcript variant X3 XM_047449246.1:c.1215+348= XM_047449246.1:c.1215+348C>T XM_047449246.1:c.1215+348C>G XM_047449246.1:c.1215+348C>A
SLC4A7 transcript variant X6 XM_047449247.1:c.894+348= XM_047449247.1:c.894+348C>T XM_047449247.1:c.894+348C>G XM_047449247.1:c.894+348C>A
SLC4A7 transcript variant X14 XM_047449248.1:c.894+348= XM_047449248.1:c.894+348C>T XM_047449248.1:c.894+348C>G XM_047449248.1:c.894+348C>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#.

66 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss5003341 Aug 28, 2002 (107)
2 BCMHGSC_JDW ss92037808 Mar 24, 2008 (129)
3 ENSEMBL ss138782753 Dec 01, 2009 (131)
4 ILLUMINA ss154272633 Dec 01, 2009 (131)
5 ILLUMINA ss159449364 Dec 01, 2009 (131)
6 ILLUMINA ss173652974 Jul 04, 2010 (132)
7 BCM-HGSC-SUB ss206144709 Jul 04, 2010 (132)
8 1000GENOMES ss211157345 Jul 14, 2010 (132)
9 1000GENOMES ss220047955 Jul 14, 2010 (132)
10 1000GENOMES ss231756978 Jul 14, 2010 (132)
11 1000GENOMES ss239182247 Jul 15, 2010 (132)
12 BL ss253002263 May 09, 2011 (134)
13 ILLUMINA ss537200004 Sep 08, 2015 (146)
14 TISHKOFF ss556505613 Apr 25, 2013 (138)
15 SSMP ss650177451 Apr 25, 2013 (138)
16 ILLUMINA ss832960919 Jul 13, 2019 (153)
17 EVA-GONL ss978405924 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1070273641 Aug 21, 2014 (142)
19 1000GENOMES ss1303294201 Aug 21, 2014 (142)
20 DDI ss1429367889 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1579895782 Apr 01, 2015 (144)
22 EVA_DECODE ss1587870462 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1606683013 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1649677046 Apr 01, 2015 (144)
25 WEILL_CORNELL_DGM ss1921652722 Feb 12, 2016 (147)
26 GENOMED ss1969353682 Jul 19, 2016 (147)
27 JJLAB ss2021385028 Sep 14, 2016 (149)
28 USC_VALOUEV ss2149450793 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2250081069 Dec 20, 2016 (150)
30 ILLUMINA ss2635117388 Nov 08, 2017 (151)
31 GRF ss2704817409 Nov 08, 2017 (151)
32 ILLUMINA ss2710968346 Nov 08, 2017 (151)
33 GNOMAD ss2790911136 Nov 08, 2017 (151)
34 SWEGEN ss2992026689 Nov 08, 2017 (151)
35 BIOINF_KMB_FNS_UNIBA ss3024454843 Nov 08, 2017 (151)
36 CSHL ss3344942372 Nov 08, 2017 (151)
37 ILLUMINA ss3628618132 Oct 12, 2018 (152)
38 ILLUMINA ss3638403947 Oct 12, 2018 (152)
39 ILLUMINA ss3641143322 Oct 12, 2018 (152)
40 ILLUMINA ss3641439860 Oct 12, 2018 (152)
41 EGCUT_WGS ss3659936537 Jul 13, 2019 (153)
42 EVA_DECODE ss3708879616 Jul 13, 2019 (153)
43 ACPOP ss3729737678 Jul 13, 2019 (153)
44 EVA ss3759814120 Jul 13, 2019 (153)
45 PACBIO ss3784267497 Jul 13, 2019 (153)
46 PACBIO ss3789791426 Jul 13, 2019 (153)
47 PACBIO ss3794665186 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3802961495 Jul 13, 2019 (153)
49 EVA ss3827723569 Apr 25, 2020 (154)
50 SGDP_PRJ ss3855484344 Apr 25, 2020 (154)
51 KRGDB ss3901278339 Apr 25, 2020 (154)
52 EVA ss4017071171 Apr 27, 2021 (155)
53 TOPMED ss4558426278 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5158343160 Apr 27, 2021 (155)
55 1000G_HIGH_COVERAGE ss5253472512 Oct 17, 2022 (156)
56 EVA ss5338672987 Oct 17, 2022 (156)
57 HUGCELL_USP ss5452926394 Oct 17, 2022 (156)
58 EVA ss5506930314 Oct 17, 2022 (156)
59 1000G_HIGH_COVERAGE ss5531523455 Oct 17, 2022 (156)
60 SANFORD_IMAGENETICS ss5631788338 Oct 17, 2022 (156)
61 TOMMO_GENOMICS ss5689762739 Oct 17, 2022 (156)
62 YY_MCH ss5803588770 Oct 17, 2022 (156)
63 EVA ss5825512334 Oct 17, 2022 (156)
64 EVA ss5853542858 Oct 17, 2022 (156)
65 EVA ss5868121665 Oct 17, 2022 (156)
66 EVA ss5960060711 Oct 17, 2022 (156)
67 1000Genomes NC_000003.11 - 27465180 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000003.12 - 27423689 Oct 17, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 27465180 Oct 12, 2018 (152)
70 Genetic variation in the Estonian population NC_000003.11 - 27465180 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000003.11 - 27465180 Apr 25, 2020 (154)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 102546994 (NC_000003.12:27423688:G:A 20150/140074)
Row 102546995 (NC_000003.12:27423688:G:C 1/140100)

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 102546994 (NC_000003.12:27423688:G:A 20150/140074)
Row 102546995 (NC_000003.12:27423688:G:C 1/140100)

- Apr 27, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000003.11 - 27465180 Apr 25, 2020 (154)
75 HapMap NC_000003.12 - 27423689 Apr 25, 2020 (154)
76 KOREAN population from KRGDB NC_000003.11 - 27465180 Apr 25, 2020 (154)
77 Northern Sweden NC_000003.11 - 27465180 Jul 13, 2019 (153)
78 Qatari NC_000003.11 - 27465180 Apr 25, 2020 (154)
79 SGDP_PRJ NC_000003.11 - 27465180 Apr 25, 2020 (154)
80 Siberian NC_000003.11 - 27465180 Apr 25, 2020 (154)
81 8.3KJPN NC_000003.11 - 27465180 Apr 27, 2021 (155)
82 14KJPN NC_000003.12 - 27423689 Oct 17, 2022 (156)
83 TopMed NC_000003.12 - 27423689 Apr 27, 2021 (155)
84 UK 10K study - Twins NC_000003.11 - 27465180 Oct 12, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000003.11 - 27465180 Jul 13, 2019 (153)
86 ALFA NC_000003.12 - 27423689 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss92037808, ss206144709, ss211157345, ss253002263, ss1587870462, ss2635117388 NC_000003.10:27440183:G:A NC_000003.12:27423688:G:A (self)
14456434, 8024795, 5674785, 6060721, 3525875, 8455733, 3022543, 3694652, 7501324, 1967147, 16312467, 8024795, 1747546, ss220047955, ss231756978, ss239182247, ss537200004, ss556505613, ss650177451, ss832960919, ss978405924, ss1070273641, ss1303294201, ss1429367889, ss1579895782, ss1606683013, ss1649677046, ss1921652722, ss1969353682, ss2021385028, ss2149450793, ss2704817409, ss2710968346, ss2790911136, ss2992026689, ss3344942372, ss3628618132, ss3638403947, ss3641143322, ss3641439860, ss3659936537, ss3729737678, ss3759814120, ss3784267497, ss3789791426, ss3794665186, ss3827723569, ss3855484344, ss3901278339, ss4017071171, ss5158343160, ss5338672987, ss5506930314, ss5631788338, ss5825512334, ss5960060711 NC_000003.11:27465179:G:A NC_000003.12:27423688:G:A (self)
19049390, 2327042, 23599843, 395803833, 9119544455, ss2250081069, ss3024454843, ss3708879616, ss3802961495, ss4558426278, ss5253472512, ss5452926394, ss5531523455, ss5689762739, ss5803588770, ss5853542858, ss5868121665 NC_000003.12:27423688:G:A NC_000003.12:27423688:G:A (self)
ss5003341, ss138782753, ss154272633, ss159449364, ss173652974 NT_022517.18:27405179:G:A NC_000003.12:27423688:G:A (self)
9119544455 NC_000003.12:27423688:G:C NC_000003.12:27423688:G:C (self)
9119544455 NC_000003.12:27423688:G:T NC_000003.12:27423688:G:T (self)
Help

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

No publications for rs3816926

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