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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.

rs1878326

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:88907356 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.354883 (130812/368606, ALFA)
G=0.319309 (84518/264690, TOPMED)
G=0.383689 (96352/251120, GnomAD_exome) (+ 24 more)
G=0.328287 (45997/140112, GnomAD)
G=0.378204 (45836/121194, ExAC)
G=0.31668 (24923/78702, PAGE_STUDY)
T=0.48496 (13704/28258, 14KJPN)
T=0.48449 (8120/16760, 8.3KJPN)
G=0.30282 (3936/12998, GO-ESP)
G=0.3599 (2305/6404, 1000G_30x)
G=0.3616 (1811/5008, 1000G)
G=0.4761 (2133/4480, Estonian)
G=0.3324 (1281/3854, ALSPAC)
G=0.3479 (1290/3708, TWINSUK)
T=0.4659 (1365/2930, KOREAN)
G=0.3724 (776/2084, HGDP_Stanford)
G=0.3402 (643/1890, HapMap)
G=0.365 (364/998, GoNL)
T=0.369 (226/612, Vietnamese)
G=0.468 (281/600, NorthernSweden)
G=0.388 (207/534, MGP)
G=0.256 (119/464, SGDP_PRJ)
G=0.490 (149/304, FINRISK)
G=0.306 (66/216, Qatari)
G=0.18 (16/88, Ancient Sardinia)
G=0.29 (12/42, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MFGE8 : Missense 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 385106 G=0.353027 T=0.646973
European Sub 323812 G=0.354382 T=0.645618
African Sub 16554 G=0.21753 T=0.78247
African Others Sub 594 G=0.165 T=0.835
African American Sub 15960 G=0.21949 T=0.78051
Asian Sub 6894 G=0.5329 T=0.4671
East Asian Sub 4928 G=0.5440 T=0.4560
Other Asian Sub 1966 G=0.5051 T=0.4949
Latin American 1 Sub 1488 G=0.3179 T=0.6821
Latin American 2 Sub 7238 G=0.4040 T=0.5960
South Asian Sub 5220 G=0.3657 T=0.6343
Other Sub 23900 G=0.36063 T=0.63937


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 368606 G=0.354883 T=0.645117
Allele Frequency Aggregator European Sub 313602 G=0.354357 T=0.645643
Allele Frequency Aggregator Other Sub 22448 G=0.36270 T=0.63730
Allele Frequency Aggregator African Sub 11716 G=0.21876 T=0.78124
Allele Frequency Aggregator Latin American 2 Sub 7238 G=0.4040 T=0.5960
Allele Frequency Aggregator Asian Sub 6894 G=0.5329 T=0.4671
Allele Frequency Aggregator South Asian Sub 5220 G=0.3657 T=0.6343
Allele Frequency Aggregator Latin American 1 Sub 1488 G=0.3179 T=0.6821
TopMed Global Study-wide 264690 G=0.319309 T=0.680691
gnomAD - Exomes Global Study-wide 251120 G=0.383689 T=0.616311
gnomAD - Exomes European Sub 135170 G=0.380728 T=0.619272
gnomAD - Exomes Asian Sub 48964 G=0.44312 T=0.55688
gnomAD - Exomes American Sub 34548 G=0.40072 T=0.59928
gnomAD - Exomes African Sub 16234 G=0.22157 T=0.77843
gnomAD - Exomes Ashkenazi Jewish Sub 10072 G=0.33936 T=0.66064
gnomAD - Exomes Other Sub 6132 G=0.3805 T=0.6195
gnomAD - Genomes Global Study-wide 140112 G=0.328287 T=0.671713
gnomAD - Genomes European Sub 75894 G=0.37425 T=0.62575
gnomAD - Genomes African Sub 41974 G=0.22176 T=0.77824
gnomAD - Genomes American Sub 13640 G=0.34523 T=0.65477
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.3273 T=0.6727
gnomAD - Genomes East Asian Sub 3126 G=0.5643 T=0.4357
gnomAD - Genomes Other Sub 2154 G=0.3366 T=0.6634
ExAC Global Study-wide 121194 G=0.378204 T=0.621796
ExAC Europe Sub 73216 G=0.37738 T=0.62262
ExAC Asian Sub 25124 G=0.43273 T=0.56727
ExAC American Sub 11546 G=0.40646 T=0.59354
ExAC African Sub 10400 G=0.21721 T=0.78279
ExAC Other Sub 908 G=0.421 T=0.579
The PAGE Study Global Study-wide 78702 G=0.31668 T=0.68332
The PAGE Study AfricanAmerican Sub 32516 G=0.22315 T=0.77685
The PAGE Study Mexican Sub 10810 G=0.40324 T=0.59676
The PAGE Study Asian Sub 8318 G=0.5177 T=0.4823
The PAGE Study PuertoRican Sub 7918 G=0.2936 T=0.7064
The PAGE Study NativeHawaiian Sub 4534 G=0.3791 T=0.6209
The PAGE Study Cuban Sub 4230 G=0.3411 T=0.6589
The PAGE Study Dominican Sub 3828 G=0.2827 T=0.7173
The PAGE Study CentralAmerican Sub 2450 G=0.3551 T=0.6449
The PAGE Study SouthAmerican Sub 1982 G=0.3996 T=0.6004
The PAGE Study NativeAmerican Sub 1260 G=0.3667 T=0.6333
The PAGE Study SouthAsian Sub 856 G=0.361 T=0.639
14KJPN JAPANESE Study-wide 28258 G=0.51504 T=0.48496
8.3KJPN JAPANESE Study-wide 16760 G=0.51551 T=0.48449
GO Exome Sequencing Project Global Study-wide 12998 G=0.30282 T=0.69718
GO Exome Sequencing Project European American Sub 8598 G=0.3476 T=0.6524
GO Exome Sequencing Project African American Sub 4400 G=0.2152 T=0.7848
1000Genomes_30x Global Study-wide 6404 G=0.3599 T=0.6401
1000Genomes_30x African Sub 1786 G=0.2038 T=0.7962
1000Genomes_30x Europe Sub 1266 G=0.3673 T=0.6327
1000Genomes_30x South Asian Sub 1202 G=0.3710 T=0.6290
1000Genomes_30x East Asian Sub 1170 G=0.5581 T=0.4419
1000Genomes_30x American Sub 980 G=0.385 T=0.615
1000Genomes Global Study-wide 5008 G=0.3616 T=0.6384
1000Genomes African Sub 1322 G=0.1989 T=0.8011
1000Genomes East Asian Sub 1008 G=0.5446 T=0.4554
1000Genomes Europe Sub 1006 G=0.3628 T=0.6372
1000Genomes South Asian Sub 978 G=0.376 T=0.624
1000Genomes American Sub 694 G=0.383 T=0.617
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4761 T=0.5239
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3324 T=0.6676
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3479 T=0.6521
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5341 C=0.0000, T=0.4659
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.3724 T=0.6276
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.534 T=0.466
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.362 T=0.638
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.326 T=0.674
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.347 T=0.653
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.194 T=0.806
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.421 T=0.579
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.17 T=0.83
HapMap Global Study-wide 1890 G=0.3402 T=0.6598
HapMap American Sub 770 G=0.386 T=0.614
HapMap African Sub 692 G=0.233 T=0.767
HapMap Asian Sub 252 G=0.504 T=0.496
HapMap Europe Sub 176 G=0.330 T=0.670
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.365 T=0.635
A Vietnamese Genetic Variation Database Global Study-wide 612 G=0.631 T=0.369
Northern Sweden ACPOP Study-wide 600 G=0.468 T=0.532
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.388 T=0.612
SGDP_PRJ Global Study-wide 464 G=0.256 T=0.744
FINRISK Finnish from FINRISK project Study-wide 304 G=0.490 T=0.510
Qatari Global Study-wide 216 G=0.306 T=0.694
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 88 G=0.18 T=0.82
Siberian Global Study-wide 42 G=0.29 T=0.71
The Danish reference pan genome Danish Study-wide 40 G=0.40 T=0.60
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 15 NC_000015.10:g.88907356G>C
GRCh38.p14 chr 15 NC_000015.10:g.88907356G>T
GRCh37.p13 chr 15 NC_000015.9:g.89450587G>C
GRCh37.p13 chr 15 NC_000015.9:g.89450587G>T
Gene: MFGE8, milk fat globule EGF and factor V/VIII domain containing (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MFGE8 transcript variant 5 NM_001310321.2:c.-111= N/A 5 Prime UTR Variant
MFGE8 transcript variant 1 NM_005928.4:c.226C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform a preproprotein NP_005919.2:p.Leu76Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant 1 NM_005928.4:c.226C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform a preproprotein NP_005919.2:p.Leu76Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant 4 NM_001310319.2:c.94C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform d precursor NP_001297248.1:p.Leu32Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant 4 NM_001310319.2:c.94C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform d precursor NP_001297248.1:p.Leu32Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant 2 NM_001114614.3:c.226C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform b precursor NP_001108086.1:p.Leu76Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant 2 NM_001114614.3:c.226C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform b precursor NP_001108086.1:p.Leu76Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant 3 NM_001310320.2:c.202C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform c NP_001297249.1:p.Leu68Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant 3 NM_001310320.2:c.202C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform c NP_001297249.1:p.Leu68Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant X1 XM_047432533.1:c.226C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform X1 XP_047288489.1:p.Leu76Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant X1 XM_047432533.1:c.226C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform X1 XP_047288489.1:p.Leu76Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant X2 XM_047432534.1:c.202C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform X2 XP_047288490.1:p.Leu68Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant X2 XM_047432534.1:c.202C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform X2 XP_047288490.1:p.Leu68Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant X4 XM_017022206.3:c.226C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform X3 XP_016877695.1:p.Leu76Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant X4 XM_017022206.3:c.226C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform X3 XP_016877695.1:p.Leu76Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant X5 XM_047432535.1:c.202C>G L [CTG] > V [GTG] Coding Sequence Variant
lactadherin isoform X4 XP_047288491.1:p.Leu68Val L (Leu) > V (Val) Missense Variant
MFGE8 transcript variant X5 XM_047432535.1:c.202C>A L [CTG] > M [ATG] Coding Sequence Variant
lactadherin isoform X4 XP_047288491.1:p.Leu68Met L (Leu) > M (Met) Missense Variant
MFGE8 transcript variant X3 XR_931838.4:n.286C>G N/A Non Coding Transcript Variant
MFGE8 transcript variant X3 XR_931838.4:n.286C>A 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.

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= C T
GRCh38.p14 chr 15 NC_000015.10:g.88907356= NC_000015.10:g.88907356G>C NC_000015.10:g.88907356G>T
GRCh37.p13 chr 15 NC_000015.9:g.89450587= NC_000015.9:g.89450587G>C NC_000015.9:g.89450587G>T
MFGE8 transcript variant 1 NM_005928.4:c.226= NM_005928.4:c.226C>G NM_005928.4:c.226C>A
MFGE8 transcript variant 1 NM_005928.3:c.226= NM_005928.3:c.226C>G NM_005928.3:c.226C>A
MFGE8 transcript variant 1 NM_005928.2:c.226= NM_005928.2:c.226C>G NM_005928.2:c.226C>A
MFGE8 transcript variant X3 XR_931838.4:n.286= XR_931838.4:n.286C>G XR_931838.4:n.286C>A
MFGE8 transcript variant X2 XR_931838.3:n.312= XR_931838.3:n.312C>G XR_931838.3:n.312C>A
MFGE8 transcript variant X1 XR_931838.2:n.361= XR_931838.2:n.361C>G XR_931838.2:n.361C>A
MFGE8 transcript variant X1 XR_931838.1:n.361= XR_931838.1:n.361C>G XR_931838.1:n.361C>A
MFGE8 transcript variant X4 XM_017022206.3:c.226= XM_017022206.3:c.226C>G XM_017022206.3:c.226C>A
MFGE8 transcript variant X3 XM_017022206.2:c.226= XM_017022206.2:c.226C>G XM_017022206.2:c.226C>A
MFGE8 transcript variant X2 XM_017022206.1:c.226= XM_017022206.1:c.226C>G XM_017022206.1:c.226C>A
MFGE8 transcript variant 2 NM_001114614.3:c.226= NM_001114614.3:c.226C>G NM_001114614.3:c.226C>A
MFGE8 transcript variant 2 NM_001114614.2:c.226= NM_001114614.2:c.226C>G NM_001114614.2:c.226C>A
MFGE8 transcript variant 2 NM_001114614.1:c.226= NM_001114614.1:c.226C>G NM_001114614.1:c.226C>A
MFGE8 transcript variant 5 NM_001310321.2:c.-111= NM_001310321.2:c.-111C>G NM_001310321.2:c.-111C>A
MFGE8 transcript variant 5 NM_001310321.1:c.-111= NM_001310321.1:c.-111C>G NM_001310321.1:c.-111C>A
MFGE8 transcript variant 3 NM_001310320.2:c.202= NM_001310320.2:c.202C>G NM_001310320.2:c.202C>A
MFGE8 transcript variant 3 NM_001310320.1:c.202= NM_001310320.1:c.202C>G NM_001310320.1:c.202C>A
MFGE8 transcript variant 4 NM_001310319.2:c.94= NM_001310319.2:c.94C>G NM_001310319.2:c.94C>A
MFGE8 transcript variant 4 NM_001310319.1:c.94= NM_001310319.1:c.94C>G NM_001310319.1:c.94C>A
MFGE8 transcript variant X5 XM_047432535.1:c.202= XM_047432535.1:c.202C>G XM_047432535.1:c.202C>A
MFGE8 transcript variant X1 XM_047432533.1:c.226= XM_047432533.1:c.226C>G XM_047432533.1:c.226C>A
MFGE8 transcript variant X2 XM_047432534.1:c.202= XM_047432534.1:c.202C>G XM_047432534.1:c.202C>A
lactadherin isoform a preproprotein NP_005919.2:p.Leu76= NP_005919.2:p.Leu76Val NP_005919.2:p.Leu76Met
lactadherin isoform X3 XP_016877695.1:p.Leu76= XP_016877695.1:p.Leu76Val XP_016877695.1:p.Leu76Met
lactadherin isoform b precursor NP_001108086.1:p.Leu76= NP_001108086.1:p.Leu76Val NP_001108086.1:p.Leu76Met
lactadherin isoform c NP_001297249.1:p.Leu68= NP_001297249.1:p.Leu68Val NP_001297249.1:p.Leu68Met
lactadherin isoform d precursor NP_001297248.1:p.Leu32= NP_001297248.1:p.Leu32Val NP_001297248.1:p.Leu32Met
lactadherin isoform X4 XP_047288491.1:p.Leu68= XP_047288491.1:p.Leu68Val XP_047288491.1:p.Leu68Met
lactadherin isoform X1 XP_047288489.1:p.Leu76= XP_047288489.1:p.Leu76Val XP_047288489.1:p.Leu76Met
lactadherin isoform X2 XP_047288490.1:p.Leu68= XP_047288490.1:p.Leu68Val XP_047288490.1:p.Leu68Met
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#.

200 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2756241 Jan 12, 2001 (92)
2 YUSUKE ss3206605 Sep 28, 2001 (100)
3 SC_JCM ss5932922 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss10781732 Jul 11, 2003 (116)
5 WI_SSAHASNP ss12325714 Jul 11, 2003 (116)
6 SSAHASNP ss21262279 Apr 05, 2004 (121)
7 PERLEGEN ss24508772 Sep 20, 2004 (123)
8 MGC_GENOME_DIFF ss28510391 Sep 24, 2004 (126)
9 ABI ss43700654 Mar 10, 2006 (126)
10 ILLUMINA ss65725969 Oct 14, 2006 (127)
11 ILLUMINA ss66641564 Nov 29, 2006 (127)
12 ILLUMINA ss67202423 Nov 29, 2006 (127)
13 ILLUMINA ss67594448 Nov 29, 2006 (127)
14 PERLEGEN ss69184334 May 16, 2007 (127)
15 ILLUMINA ss70680646 May 26, 2008 (130)
16 ILLUMINA ss71244288 May 16, 2007 (127)
17 ILLUMINA ss75528035 Dec 07, 2007 (129)
18 HGSV ss78160396 Dec 07, 2007 (129)
19 ILLUMINA ss79098121 Dec 15, 2007 (130)
20 KRIBB_YJKIM ss80732064 Dec 15, 2007 (130)
21 HGSV ss82406309 Dec 15, 2007 (130)
22 HGSV ss82594287 Dec 15, 2007 (130)
23 KRIBB_YJKIM ss83898752 Dec 15, 2007 (130)
24 CORNELL ss86238050 Mar 23, 2008 (129)
25 BCMHGSC_JDW ss90245350 Mar 24, 2008 (129)
26 HUMANGENOME_JCVI ss96777953 Feb 06, 2009 (130)
27 1000GENOMES ss109020081 Jan 23, 2009 (130)
28 1000GENOMES ss114518639 Jan 25, 2009 (130)
29 ILLUMINA-UK ss118320262 Feb 14, 2009 (130)
30 ILLUMINA ss121834992 Dec 01, 2009 (131)
31 ENSEMBL ss136480221 Dec 01, 2009 (131)
32 ENSEMBL ss136832898 Dec 01, 2009 (131)
33 ILLUMINA ss153760903 Dec 01, 2009 (131)
34 GMI ss156839730 Dec 01, 2009 (131)
35 ILLUMINA ss159335508 Dec 01, 2009 (131)
36 SEATTLESEQ ss159731339 Dec 01, 2009 (131)
37 ILLUMINA ss160470714 Dec 01, 2009 (131)
38 COMPLETE_GENOMICS ss168457788 Jul 04, 2010 (132)
39 COMPLETE_GENOMICS ss170152745 Jul 04, 2010 (132)
40 ILLUMINA ss170853879 Jul 04, 2010 (132)
41 COMPLETE_GENOMICS ss171474502 Jul 04, 2010 (132)
42 ILLUMINA ss172960812 Jul 04, 2010 (132)
43 BUSHMAN ss201152563 Jul 04, 2010 (132)
44 BCM-HGSC-SUB ss207305263 Jul 04, 2010 (132)
45 1000GENOMES ss227024678 Jul 14, 2010 (132)
46 1000GENOMES ss236872003 Jul 15, 2010 (132)
47 1000GENOMES ss243241623 Jul 15, 2010 (132)
48 BL ss255183518 May 09, 2011 (134)
49 GMI ss282355285 May 04, 2012 (137)
50 PJP ss291770924 May 09, 2011 (134)
51 NHLBI-ESP ss342411667 May 09, 2011 (134)
52 ILLUMINA ss480324740 May 04, 2012 (137)
53 ILLUMINA ss480336242 May 04, 2012 (137)
54 ILLUMINA ss481098433 Sep 08, 2015 (146)
55 ILLUMINA ss484960043 May 04, 2012 (137)
56 1000GENOMES ss491090271 May 04, 2012 (137)
57 EXOME_CHIP ss491499130 May 04, 2012 (137)
58 CLINSEQ_SNP ss491706843 May 04, 2012 (137)
59 ILLUMINA ss537001472 Sep 08, 2015 (146)
60 TISHKOFF ss564637175 Apr 25, 2013 (138)
61 SSMP ss660380572 Apr 25, 2013 (138)
62 ILLUMINA ss778470383 Aug 21, 2014 (142)
63 ILLUMINA ss780712263 Sep 08, 2015 (146)
64 ILLUMINA ss782926332 Aug 21, 2014 (142)
65 ILLUMINA ss783387156 Sep 08, 2015 (146)
66 ILLUMINA ss783889218 Aug 21, 2014 (142)
67 ILLUMINA ss825428639 Apr 01, 2015 (144)
68 ILLUMINA ss832181632 Apr 01, 2015 (144)
69 ILLUMINA ss832847490 Aug 21, 2014 (142)
70 ILLUMINA ss833438320 Aug 21, 2014 (142)
71 ILLUMINA ss833926163 Aug 21, 2014 (142)
72 EVA-GONL ss992061119 Aug 21, 2014 (142)
73 JMKIDD_LAB ss1067555502 Aug 21, 2014 (142)
74 JMKIDD_LAB ss1080322277 Aug 21, 2014 (142)
75 1000GENOMES ss1354530251 Aug 21, 2014 (142)
76 DDI ss1427709069 Apr 01, 2015 (144)
77 EVA_GENOME_DK ss1577743407 Apr 01, 2015 (144)
78 EVA_FINRISK ss1584096080 Apr 01, 2015 (144)
79 EVA_UK10K_ALSPAC ss1633568280 Apr 01, 2015 (144)
80 EVA_UK10K_TWINSUK ss1676562313 Apr 01, 2015 (144)
81 EVA_EXAC ss1691983729 Apr 01, 2015 (144)
82 EVA_DECODE ss1696088418 Apr 01, 2015 (144)
83 EVA_MGP ss1711408830 Apr 01, 2015 (144)
84 EVA_SVP ss1713509891 Apr 01, 2015 (144)
85 ILLUMINA ss1752176188 Sep 08, 2015 (146)
86 ILLUMINA ss1752176189 Sep 08, 2015 (146)
87 HAMMER_LAB ss1808317601 Sep 08, 2015 (146)
88 ILLUMINA ss1917900391 Feb 12, 2016 (147)
89 WEILL_CORNELL_DGM ss1935461377 Feb 12, 2016 (147)
90 ILLUMINA ss1946401573 Feb 12, 2016 (147)
91 ILLUMINA ss1946401574 Feb 12, 2016 (147)
92 ILLUMINA ss1959635334 Feb 12, 2016 (147)
93 ILLUMINA ss1959635335 Feb 12, 2016 (147)
94 GENOMED ss1968169337 Jul 19, 2016 (147)
95 JJLAB ss2028514414 Sep 14, 2016 (149)
96 USC_VALOUEV ss2156922592 Nov 08, 2017 (151)
97 HUMAN_LONGEVITY ss2208936983 Dec 20, 2016 (150)
98 SYSTEMSBIOZJU ss2628751833 Nov 08, 2017 (151)
99 ILLUMINA ss2633263727 Nov 08, 2017 (151)
100 ILLUMINA ss2635060423 Nov 08, 2017 (151)
101 GRF ss2701409039 Nov 08, 2017 (151)
102 ILLUMINA ss2710661883 Nov 08, 2017 (151)
103 GNOMAD ss2741490591 Nov 08, 2017 (151)
104 GNOMAD ss2749379396 Nov 08, 2017 (151)
105 GNOMAD ss2937967916 Nov 08, 2017 (151)
106 AFFY ss2985050563 Nov 08, 2017 (151)
107 SWEGEN ss3013718500 Nov 08, 2017 (151)
108 ILLUMINA ss3021658877 Nov 08, 2017 (151)
109 ILLUMINA ss3021658878 Nov 08, 2017 (151)
110 EVA_SAMSUNG_MC ss3023069317 Nov 08, 2017 (151)
111 BIOINF_KMB_FNS_UNIBA ss3028080777 Nov 08, 2017 (151)
112 CSHL ss3351233189 Nov 08, 2017 (151)
113 ILLUMINA ss3625680404 Oct 12, 2018 (152)
114 ILLUMINA ss3627424741 Oct 12, 2018 (152)
115 ILLUMINA ss3627424742 Oct 12, 2018 (152)
116 ILLUMINA ss3631254175 Oct 12, 2018 (152)
117 ILLUMINA ss3633106324 Oct 12, 2018 (152)
118 ILLUMINA ss3633811384 Oct 12, 2018 (152)
119 ILLUMINA ss3634619844 Oct 12, 2018 (152)
120 ILLUMINA ss3634619845 Oct 12, 2018 (152)
121 ILLUMINA ss3635500087 Oct 12, 2018 (152)
122 ILLUMINA ss3636310694 Oct 12, 2018 (152)
123 ILLUMINA ss3637251408 Oct 12, 2018 (152)
124 ILLUMINA ss3638101309 Oct 12, 2018 (152)
125 ILLUMINA ss3639063115 Oct 12, 2018 (152)
126 ILLUMINA ss3639537189 Oct 12, 2018 (152)
127 ILLUMINA ss3640327164 Oct 12, 2018 (152)
128 ILLUMINA ss3640327165 Oct 12, 2018 (152)
129 ILLUMINA ss3643084408 Oct 12, 2018 (152)
130 ILLUMINA ss3644654684 Oct 12, 2018 (152)
131 ILLUMINA ss3644654685 Oct 12, 2018 (152)
132 OMUKHERJEE_ADBS ss3646480472 Oct 12, 2018 (152)
133 URBANLAB ss3650413701 Oct 12, 2018 (152)
134 ILLUMINA ss3652061619 Oct 12, 2018 (152)
135 ILLUMINA ss3652061620 Oct 12, 2018 (152)
136 ILLUMINA ss3653822534 Oct 12, 2018 (152)
137 EGCUT_WGS ss3680849864 Jul 13, 2019 (153)
138 EVA_DECODE ss3698416814 Jul 13, 2019 (153)
139 ILLUMINA ss3725522795 Jul 13, 2019 (153)
140 ACPOP ss3741151661 Jul 13, 2019 (153)
141 ILLUMINA ss3744134964 Jul 13, 2019 (153)
142 ILLUMINA ss3744424459 Jul 13, 2019 (153)
143 ILLUMINA ss3744920373 Jul 13, 2019 (153)
144 ILLUMINA ss3744920374 Jul 13, 2019 (153)
145 EVA ss3753419399 Jul 13, 2019 (153)
146 PAGE_CC ss3771848628 Jul 13, 2019 (153)
147 ILLUMINA ss3772418871 Jul 13, 2019 (153)
148 ILLUMINA ss3772418872 Jul 13, 2019 (153)
149 PACBIO ss3787921366 Jul 13, 2019 (153)
150 PACBIO ss3792921436 Jul 13, 2019 (153)
151 PACBIO ss3797806056 Jul 13, 2019 (153)
152 KHV_HUMAN_GENOMES ss3818720145 Jul 13, 2019 (153)
153 EVA ss3824951287 Apr 27, 2020 (154)
154 EVA ss3825530133 Apr 27, 2020 (154)
155 EVA ss3825545042 Apr 27, 2020 (154)
156 EVA ss3825865759 Apr 27, 2020 (154)
157 EVA ss3834364617 Apr 27, 2020 (154)
158 EVA ss3840784798 Apr 27, 2020 (154)
159 EVA ss3846274758 Apr 27, 2020 (154)
160 HGDP ss3847532257 Apr 27, 2020 (154)
161 SGDP_PRJ ss3883479332 Apr 27, 2020 (154)
162 KRGDB ss3932727771 Apr 27, 2020 (154)
163 FSA-LAB ss3984080116 Apr 26, 2021 (155)
164 EVA ss3984705731 Apr 26, 2021 (155)
165 EVA ss3984705732 Apr 26, 2021 (155)
166 EVA ss3985732959 Apr 26, 2021 (155)
167 EVA ss3986068432 Apr 26, 2021 (155)
168 EVA ss3986661402 Apr 26, 2021 (155)
169 EVA ss4017715776 Apr 26, 2021 (155)
170 TOPMED ss5000760554 Apr 26, 2021 (155)
171 TOMMO_GENOMICS ss5217449648 Apr 26, 2021 (155)
172 EVA ss5236926925 Apr 26, 2021 (155)
173 EVA ss5237664784 Oct 16, 2022 (156)
174 1000G_HIGH_COVERAGE ss5299381803 Oct 16, 2022 (156)
175 TRAN_CS_UWATERLOO ss5314442113 Oct 16, 2022 (156)
176 EVA ss5315804667 Oct 16, 2022 (156)
177 EVA ss5420953345 Oct 16, 2022 (156)
178 HUGCELL_USP ss5493000499 Oct 16, 2022 (156)
179 EVA ss5511515242 Oct 16, 2022 (156)
180 1000G_HIGH_COVERAGE ss5601256318 Oct 16, 2022 (156)
181 EVA ss5623965472 Oct 16, 2022 (156)
182 EVA ss5624056323 Oct 16, 2022 (156)
183 SANFORD_IMAGENETICS ss5624368074 Oct 16, 2022 (156)
184 SANFORD_IMAGENETICS ss5658036785 Oct 16, 2022 (156)
185 TOMMO_GENOMICS ss5771634492 Oct 16, 2022 (156)
186 EVA ss5799945482 Oct 16, 2022 (156)
187 EVA ss5800068607 Oct 16, 2022 (156)
188 EVA ss5800196029 Oct 16, 2022 (156)
189 YY_MCH ss5815570250 Oct 16, 2022 (156)
190 EVA ss5828563639 Oct 16, 2022 (156)
191 EVA ss5847453863 Oct 16, 2022 (156)
192 EVA ss5847753557 Oct 16, 2022 (156)
193 EVA ss5848410159 Oct 16, 2022 (156)
194 EVA ss5851400868 Oct 16, 2022 (156)
195 EVA ss5876949745 Oct 16, 2022 (156)
196 EVA ss5936561426 Oct 16, 2022 (156)
197 EVA ss5949459252 Oct 16, 2022 (156)
198 EVA ss5979470248 Oct 16, 2022 (156)
199 EVA ss5980888302 Oct 16, 2022 (156)
200 EVA ss5981291687 Oct 16, 2022 (156)
201 1000Genomes NC_000015.9 - 89450587 Oct 12, 2018 (152)
202 1000Genomes_30x NC_000015.10 - 88907356 Oct 16, 2022 (156)
203 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 89450587 Oct 12, 2018 (152)
204 Genetic variation in the Estonian population NC_000015.9 - 89450587 Oct 12, 2018 (152)
205 ExAC NC_000015.9 - 89450587 Oct 12, 2018 (152)
206 FINRISK NC_000015.9 - 89450587 Apr 27, 2020 (154)
207 The Danish reference pan genome NC_000015.9 - 89450587 Apr 27, 2020 (154)
208 gnomAD - Genomes NC_000015.10 - 88907356 Apr 26, 2021 (155)
209 gnomAD - Exomes NC_000015.9 - 89450587 Jul 13, 2019 (153)
210 GO Exome Sequencing Project NC_000015.9 - 89450587 Oct 12, 2018 (152)
211 Genome of the Netherlands Release 5 NC_000015.9 - 89450587 Apr 27, 2020 (154)
212 HGDP-CEPH-db Supplement 1 NC_000015.8 - 87251591 Apr 27, 2020 (154)
213 HapMap NC_000015.10 - 88907356 Apr 27, 2020 (154)
214 KOREAN population from KRGDB NC_000015.9 - 89450587 Apr 27, 2020 (154)
215 Medical Genome Project healthy controls from Spanish population NC_000015.9 - 89450587 Apr 27, 2020 (154)
216 Northern Sweden NC_000015.9 - 89450587 Jul 13, 2019 (153)
217 The PAGE Study NC_000015.10 - 88907356 Jul 13, 2019 (153)
218 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 89450587 Apr 26, 2021 (155)
219 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 255259 (NC_000015.9:89450586:G:T 360/786)
Row 255260 (NC_000015.9:89450586:G:T 361/788)

- Apr 26, 2021 (155)
220 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 255259 (NC_000015.9:89450586:G:T 360/786)
Row 255260 (NC_000015.9:89450586:G:T 361/788)

- Apr 26, 2021 (155)
221 Qatari NC_000015.9 - 89450587 Apr 27, 2020 (154)
222 SGDP_PRJ NC_000015.9 - 89450587 Apr 27, 2020 (154)
223 Siberian NC_000015.9 - 89450587 Apr 27, 2020 (154)
224 8.3KJPN NC_000015.9 - 89450587 Apr 26, 2021 (155)
225 14KJPN NC_000015.10 - 88907356 Oct 16, 2022 (156)
226 TopMed NC_000015.10 - 88907356 Apr 26, 2021 (155)
227 UK 10K study - Twins NC_000015.9 - 89450587 Oct 12, 2018 (152)
228 A Vietnamese Genetic Variation Database NC_000015.9 - 89450587 Jul 13, 2019 (153)
229 ALFA NC_000015.10 - 88907356 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)
rs11557314 Mar 10, 2006 (126)
rs17202746 Oct 08, 2004 (123)
rs17856089 Mar 10, 2006 (126)
rs60806175 May 26, 2008 (130)
rs117958186 Aug 16, 2010 (132)
rs386547635 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
39905165, ss3932727771 NC_000015.9:89450586:G:C NC_000015.10:88907355:G:C (self)
210149, ss78160396, ss82406309, ss82594287, ss90245350, ss109020081, ss114518639, ss118320262, ss168457788, ss170152745, ss171474502, ss201152563, ss207305263, ss255183518, ss282355285, ss291770924, ss480324740, ss491706843, ss825428639, ss1696088418, ss1713509891, ss2635060423, ss2710661883, ss3639063115, ss3639537189, ss3643084408, ss3847532257 NC_000015.8:87251590:G:T NC_000015.10:88907355:G:T (self)
67639779, 37563614, 26588112, 2368864, 92541, 3962794, 10758726, 1408530, 16761296, 39905165, 524590, 14436526, 958886, 17503307, 35496312, 9438946, 75418955, 37563614, 8350332, ss227024678, ss236872003, ss243241623, ss342411667, ss480336242, ss481098433, ss484960043, ss491090271, ss491499130, ss537001472, ss564637175, ss660380572, ss778470383, ss780712263, ss782926332, ss783387156, ss783889218, ss832181632, ss832847490, ss833438320, ss833926163, ss992061119, ss1067555502, ss1080322277, ss1354530251, ss1427709069, ss1577743407, ss1584096080, ss1633568280, ss1676562313, ss1691983729, ss1711408830, ss1752176188, ss1752176189, ss1808317601, ss1917900391, ss1935461377, ss1946401573, ss1946401574, ss1959635334, ss1959635335, ss1968169337, ss2028514414, ss2156922592, ss2628751833, ss2633263727, ss2701409039, ss2741490591, ss2749379396, ss2937967916, ss2985050563, ss3013718500, ss3021658877, ss3021658878, ss3023069317, ss3351233189, ss3625680404, ss3627424741, ss3627424742, ss3631254175, ss3633106324, ss3633811384, ss3634619844, ss3634619845, ss3635500087, ss3636310694, ss3637251408, ss3638101309, ss3640327164, ss3640327165, ss3644654684, ss3644654685, ss3646480472, ss3652061619, ss3652061620, ss3653822534, ss3680849864, ss3741151661, ss3744134964, ss3744424459, ss3744920373, ss3744920374, ss3753419399, ss3772418871, ss3772418872, ss3787921366, ss3792921436, ss3797806056, ss3824951287, ss3825530133, ss3825545042, ss3825865759, ss3834364617, ss3840784798, ss3883479332, ss3932727771, ss3984080116, ss3984705731, ss3984705732, ss3985732959, ss3986068432, ss3986661402, ss4017715776, ss5217449648, ss5315804667, ss5420953345, ss5511515242, ss5623965472, ss5624056323, ss5624368074, ss5658036785, ss5799945482, ss5800068607, ss5800196029, ss5828563639, ss5847453863, ss5847753557, ss5848410159, ss5936561426, ss5949459252, ss5979470248, ss5980888302, ss5981291687 NC_000015.9:89450586:G:T NC_000015.10:88907355:G:T (self)
88782253, 476886106, 1312697, 1070097, 105471596, 216306214, 9193671404, ss2208936983, ss3028080777, ss3650413701, ss3698416814, ss3725522795, ss3771848628, ss3818720145, ss3846274758, ss5000760554, ss5236926925, ss5237664784, ss5299381803, ss5314442113, ss5493000499, ss5601256318, ss5771634492, ss5815570250, ss5851400868, ss5876949745 NC_000015.10:88907355:G:T NC_000015.10:88907355:G:T (self)
ss10781732, ss12325714, ss21262279 NT_010274.15:4416113:G:T NC_000015.10:88907355:G:T (self)
ss2756241, ss3206605, ss5932922, ss24508772, ss28510391, ss43700654, ss65725969, ss66641564, ss67202423, ss67594448, ss69184334, ss70680646, ss71244288, ss75528035, ss79098121, ss80732064, ss83898752, ss86238050, ss96777953, ss121834992, ss136480221, ss136832898, ss153760903, ss156839730, ss159335508, ss159731339, ss160470714, ss170853879, ss172960812 NT_010274.17:4416113:G:T NC_000015.10:88907355: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 rs1878326

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