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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.

rs11677877

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:227266453 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.085364 (28316/331708, ALFA)
G=0.093135 (24652/264690, TOPMED)
G=0.096856 (24153/249370, GnomAD_exome) (+ 27 more)
G=0.080498 (11284/140178, GnomAD)
G=0.094353 (11304/119806, ExAC)
G=0.11043 (8689/78682, PAGE_STUDY)
G=0.09106 (2573/28256, 14KJPN)
G=0.09004 (1509/16760, 8.3KJPN)
G=0.07353 (873/11872, GO-ESP)
G=0.1113 (713/6404, 1000G_30x)
G=0.1114 (558/5008, 1000G)
G=0.0469 (210/4480, Estonian)
G=0.0719 (277/3854, ALSPAC)
G=0.0769 (285/3708, TWINSUK)
G=0.1225 (359/2930, KOREAN)
G=0.0877 (165/1882, HapMap)
G=0.1326 (243/1832, Korea1K)
G=0.1014 (115/1134, Daghestan)
G=0.061 (61/998, GoNL)
G=0.152 (95/626, Chileans)
G=0.179 (110/614, Vietnamese)
G=0.035 (21/600, NorthernSweden)
G=0.073 (39/534, MGP)
G=0.043 (13/304, FINRISK)
G=0.046 (10/216, Qatari)
A=0.453 (68/150, SGDP_PRJ)
G=0.12 (6/52, Ancient Sardinia)
G=0.07 (3/40, GENOME_DK)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COL4A3 : Missense Variant
MFF-DT : Intron Variant
Publications
3 citations
Genomic View
See rs on genome

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

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 348214 A=0.915233 G=0.084767
European Sub 289516 A=0.920871 G=0.079129
African Sub 16808 A=0.92985 G=0.07015
African Others Sub 584 A=0.942 G=0.058
African American Sub 16224 A=0.92943 G=0.07057
Asian Sub 6956 A=0.8243 G=0.1757
East Asian Sub 4970 A=0.8469 G=0.1531
Other Asian Sub 1986 A=0.7679 G=0.2321
Latin American 1 Sub 1542 A=0.9034 G=0.0966
Latin American 2 Sub 8812 A=0.8303 G=0.1697
South Asian Sub 380 A=0.853 G=0.147
Other Sub 24200 A=0.89640 G=0.10360


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 331708 A=0.914636 G=0.085364
Allele Frequency Aggregator European Sub 279300 A=0.920644 G=0.079356
Allele Frequency Aggregator Other Sub 22748 A=0.89454 G=0.10546
Allele Frequency Aggregator African Sub 11970 A=0.93058 G=0.06942
Allele Frequency Aggregator Latin American 2 Sub 8812 A=0.8303 G=0.1697
Allele Frequency Aggregator Asian Sub 6956 A=0.8243 G=0.1757
Allele Frequency Aggregator Latin American 1 Sub 1542 A=0.9034 G=0.0966
Allele Frequency Aggregator South Asian Sub 380 A=0.853 G=0.147
TopMed Global Study-wide 264690 A=0.906865 G=0.093135
gnomAD - Exomes Global Study-wide 249370 A=0.903144 G=0.096856
gnomAD - Exomes European Sub 134744 A=0.931121 G=0.068879
gnomAD - Exomes Asian Sub 48530 A=0.87342 G=0.12658
gnomAD - Exomes American Sub 34496 A=0.82210 G=0.17790
gnomAD - Exomes African Sub 15474 A=0.93072 G=0.06928
gnomAD - Exomes Ashkenazi Jewish Sub 10070 A=0.91003 G=0.08997
gnomAD - Exomes Other Sub 6056 A=0.8986 G=0.1014
gnomAD - Genomes Global Study-wide 140178 A=0.919502 G=0.080498
gnomAD - Genomes European Sub 75932 A=0.93287 G=0.06713
gnomAD - Genomes African Sub 42014 A=0.93138 G=0.06862
gnomAD - Genomes American Sub 13634 A=0.83284 G=0.16716
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.9011 G=0.0989
gnomAD - Genomes East Asian Sub 3126 A=0.8388 G=0.1612
gnomAD - Genomes Other Sub 2154 A=0.9104 G=0.0896
ExAC Global Study-wide 119806 A=0.905647 G=0.094353
ExAC Europe Sub 72806 A=0.92716 G=0.07284
ExAC Asian Sub 24906 A=0.87252 G=0.12748
ExAC American Sub 11476 A=0.82206 G=0.17794
ExAC African Sub 9730 A=0.9298 G=0.0702
ExAC Other Sub 888 A=0.886 G=0.114
The PAGE Study Global Study-wide 78682 A=0.88957 G=0.11043
The PAGE Study AfricanAmerican Sub 32506 A=0.93321 G=0.06679
The PAGE Study Mexican Sub 10806 A=0.83380 G=0.16620
The PAGE Study Asian Sub 8316 A=0.8879 G=0.1121
The PAGE Study PuertoRican Sub 7916 A=0.8722 G=0.1278
The PAGE Study NativeHawaiian Sub 4534 A=0.8328 G=0.1672
The PAGE Study Cuban Sub 4230 A=0.8969 G=0.1031
The PAGE Study Dominican Sub 3828 A=0.8942 G=0.1058
The PAGE Study CentralAmerican Sub 2450 A=0.7980 G=0.2020
The PAGE Study SouthAmerican Sub 1980 A=0.7783 G=0.2217
The PAGE Study NativeAmerican Sub 1260 A=0.8802 G=0.1198
The PAGE Study SouthAsian Sub 856 A=0.890 G=0.110
14KJPN JAPANESE Study-wide 28256 A=0.90894 G=0.09106
8.3KJPN JAPANESE Study-wide 16760 A=0.90996 G=0.09004
GO Exome Sequencing Project Global Study-wide 11872 A=0.92647 G=0.07353
GO Exome Sequencing Project European American Sub 8190 A=0.9233 G=0.0767
GO Exome Sequencing Project African American Sub 3682 A=0.9335 G=0.0665
1000Genomes_30x Global Study-wide 6404 A=0.8887 G=0.1113
1000Genomes_30x African Sub 1786 A=0.9345 G=0.0655
1000Genomes_30x Europe Sub 1266 A=0.9313 G=0.0687
1000Genomes_30x South Asian Sub 1202 A=0.8819 G=0.1181
1000Genomes_30x East Asian Sub 1170 A=0.8359 G=0.1641
1000Genomes_30x American Sub 980 A=0.821 G=0.179
1000Genomes Global Study-wide 5008 A=0.8886 G=0.1114
1000Genomes African Sub 1322 A=0.9334 G=0.0666
1000Genomes East Asian Sub 1008 A=0.8423 G=0.1577
1000Genomes Europe Sub 1006 A=0.9314 G=0.0686
1000Genomes South Asian Sub 978 A=0.882 G=0.118
1000Genomes American Sub 694 A=0.817 G=0.183
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9531 G=0.0469
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9281 G=0.0719
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9231 G=0.0769
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8775 G=0.1225
HapMap Global Study-wide 1882 A=0.9123 G=0.0877
HapMap American Sub 762 A=0.887 G=0.113
HapMap African Sub 692 A=0.945 G=0.055
HapMap Asian Sub 252 A=0.885 G=0.115
HapMap Europe Sub 176 A=0.932 G=0.068
Korean Genome Project KOREAN Study-wide 1832 A=0.8674 G=0.1326
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.8986 G=0.1014
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.895 G=0.105
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.896 G=0.104
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.902 G=0.098
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.907 G=0.093
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.90 G=0.10
Genome-wide autozygosity in Daghestan Caucasus Sub 34 A=0.94 G=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.939 G=0.061
Chileans Chilean Study-wide 626 A=0.848 G=0.152
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.821 G=0.179
Northern Sweden ACPOP Study-wide 600 A=0.965 G=0.035
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.927 G=0.073
FINRISK Finnish from FINRISK project Study-wide 304 A=0.957 G=0.043
Qatari Global Study-wide 216 A=0.954 G=0.046
SGDP_PRJ Global Study-wide 150 A=0.453 G=0.547
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 52 A=0.88 G=0.12
The Danish reference pan genome Danish Study-wide 40 A=0.93 G=0.07
Siberian Global Study-wide 2 A=0.5 G=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 2 NC_000002.12:g.227266453A>C
GRCh38.p14 chr 2 NC_000002.12:g.227266453A>G
GRCh37.p13 chr 2 NC_000002.11:g.228131169A>C
GRCh37.p13 chr 2 NC_000002.11:g.228131169A>G
COL4A3 RefSeqGene (LRG_230) NG_011591.1:g.106889A>C
COL4A3 RefSeqGene (LRG_230) NG_011591.1:g.106889A>G
Gene: COL4A3, collagen type IV alpha 3 chain (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COL4A3 transcript NM_000091.5:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain precursor NP_000082.2:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript NM_000091.5:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain precursor NP_000082.2:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X1 XM_005246277.4:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X1 XP_005246334.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X1 XM_005246277.4:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X1 XP_005246334.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X2 XM_011510555.2:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X2 XP_011508857.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X2 XM_011510555.2:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X2 XP_011508857.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X3 XM_047443224.1:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X3 XP_047299180.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X3 XM_047443224.1:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X3 XP_047299180.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X5 XM_006712245.4:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X4 XP_006712308.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X5 XM_006712245.4:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X4 XP_006712308.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X6 XM_017003295.2:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X5 XP_016858784.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X6 XM_017003295.2:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X5 XP_016858784.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X7 XM_005246280.4:c.1352A>C H [CAC] > P [CCC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X6 XP_005246337.1:p.His451Pro H (His) > P (Pro) Missense Variant
COL4A3 transcript variant X7 XM_005246280.4:c.1352A>G H [CAC] > R [CGC] Coding Sequence Variant
collagen alpha-3(IV) chain isoform X6 XP_005246337.1:p.His451Arg H (His) > R (Arg) Missense Variant
COL4A3 transcript variant X4 XR_001738601.2:n.1455A>C N/A Non Coding Transcript Variant
COL4A3 transcript variant X4 XR_001738601.2:n.1455A>G N/A Non Coding Transcript Variant
Gene: MFF-DT, MFF divergent transcript (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MFF-DT transcript NR_102371.1:n. 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.

Allele: G (allele ID: 250637 )
ClinVar Accession Disease Names Clinical Significance
RCV000244910.9 not specified Benign
RCV000357978.4 Alport syndrome Likely-Benign
RCV000710808.5 not provided Benign
RCV001527244.2 Autosomal recessive Alport syndrome 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 A= C G
GRCh38.p14 chr 2 NC_000002.12:g.227266453= NC_000002.12:g.227266453A>C NC_000002.12:g.227266453A>G
GRCh37.p13 chr 2 NC_000002.11:g.228131169= NC_000002.11:g.228131169A>C NC_000002.11:g.228131169A>G
COL4A3 RefSeqGene (LRG_230) NG_011591.1:g.106889= NG_011591.1:g.106889A>C NG_011591.1:g.106889A>G
COL4A3 transcript NM_000091.5:c.1352= NM_000091.5:c.1352A>C NM_000091.5:c.1352A>G
COL4A3 transcript NM_000091.4:c.1352= NM_000091.4:c.1352A>C NM_000091.4:c.1352A>G
COL4A3 transcript variant X1 XM_005246277.4:c.1352= XM_005246277.4:c.1352A>C XM_005246277.4:c.1352A>G
COL4A3 transcript variant X1 XM_005246277.3:c.1352= XM_005246277.3:c.1352A>C XM_005246277.3:c.1352A>G
COL4A3 transcript variant X2 XM_005246277.2:c.1352= XM_005246277.2:c.1352A>C XM_005246277.2:c.1352A>G
COL4A3 transcript variant X3 XM_005246277.1:c.1352= XM_005246277.1:c.1352A>C XM_005246277.1:c.1352A>G
COL4A3 transcript variant X5 XM_006712245.4:c.1352= XM_006712245.4:c.1352A>C XM_006712245.4:c.1352A>G
COL4A3 transcript variant X6 XM_006712245.3:c.1352= XM_006712245.3:c.1352A>C XM_006712245.3:c.1352A>G
COL4A3 transcript variant X6 XM_006712245.2:c.1352= XM_006712245.2:c.1352A>C XM_006712245.2:c.1352A>G
COL4A3 transcript variant X9 XM_006712245.1:c.1352= XM_006712245.1:c.1352A>C XM_006712245.1:c.1352A>G
COL4A3 transcript variant X7 XM_005246280.4:c.1352= XM_005246280.4:c.1352A>C XM_005246280.4:c.1352A>G
COL4A3 transcript variant X8 XM_005246280.3:c.1352= XM_005246280.3:c.1352A>C XM_005246280.3:c.1352A>G
COL4A3 transcript variant X7 XM_005246280.2:c.1352= XM_005246280.2:c.1352A>C XM_005246280.2:c.1352A>G
COL4A3 transcript variant X6 XM_005246280.1:c.1352= XM_005246280.1:c.1352A>C XM_005246280.1:c.1352A>G
COL4A3 transcript variant 2 NM_031362.2:c.1352= NM_031362.2:c.1352A>C NM_031362.2:c.1352A>G
COL4A3 transcript variant 5 NM_031365.2:c.1352= NM_031365.2:c.1352A>C NM_031365.2:c.1352A>G
COL4A3 transcript variant 6 NM_031366.2:c.1352= NM_031366.2:c.1352A>C NM_031366.2:c.1352A>G
COL4A3 transcript variant X2 XM_011510555.2:c.1352= XM_011510555.2:c.1352A>C XM_011510555.2:c.1352A>G
COL4A3 transcript variant X2 XM_011510555.1:c.1352= XM_011510555.1:c.1352A>C XM_011510555.1:c.1352A>G
COL4A3 transcript variant X4 XR_001738601.2:n.1455= XR_001738601.2:n.1455A>C XR_001738601.2:n.1455A>G
COL4A3 transcript variant X5 XR_001738601.1:n.1490= XR_001738601.1:n.1490A>C XR_001738601.1:n.1490A>G
COL4A3 transcript variant X6 XM_017003295.2:c.1352= XM_017003295.2:c.1352A>C XM_017003295.2:c.1352A>G
COL4A3 transcript variant X7 XM_017003295.1:c.1352= XM_017003295.1:c.1352A>C XM_017003295.1:c.1352A>G
COL4A3 transcript variant X3 XM_047443224.1:c.1352= XM_047443224.1:c.1352A>C XM_047443224.1:c.1352A>G
COL4A3 transcript variant 2 NM_031362.1:c.1352= NM_031362.1:c.1352A>C NM_031362.1:c.1352A>G
COL4A3 transcript variant 3 NM_031363.1:c.1352= NM_031363.1:c.1352A>C NM_031363.1:c.1352A>G
COL4A3 transcript variant 4 NM_031364.1:c.1352= NM_031364.1:c.1352A>C NM_031364.1:c.1352A>G
COL4A3 transcript variant 5 NM_031365.1:c.1352= NM_031365.1:c.1352A>C NM_031365.1:c.1352A>G
COL4A3 transcript variant 6 NM_031366.1:c.1352= NM_031366.1:c.1352A>C NM_031366.1:c.1352A>G
collagen alpha-3(IV) chain precursor NP_000082.2:p.His451= NP_000082.2:p.His451Pro NP_000082.2:p.His451Arg
collagen alpha-3(IV) chain isoform X1 XP_005246334.1:p.His451= XP_005246334.1:p.His451Pro XP_005246334.1:p.His451Arg
collagen alpha-3(IV) chain isoform X4 XP_006712308.1:p.His451= XP_006712308.1:p.His451Pro XP_006712308.1:p.His451Arg
collagen alpha-3(IV) chain isoform X6 XP_005246337.1:p.His451= XP_005246337.1:p.His451Pro XP_005246337.1:p.His451Arg
collagen alpha-3(IV) chain isoform X2 XP_011508857.1:p.His451= XP_011508857.1:p.His451Pro XP_011508857.1:p.His451Arg
collagen alpha-3(IV) chain isoform X5 XP_016858784.1:p.His451= XP_016858784.1:p.His451Pro XP_016858784.1:p.His451Arg
collagen alpha-3(IV) chain isoform X3 XP_047299180.1:p.His451= XP_047299180.1:p.His451Pro XP_047299180.1:p.His451Arg
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#.

149 SubSNP, 29 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16823500 Feb 28, 2004 (120)
2 SSAHASNP ss21631961 Apr 05, 2004 (121)
3 ABI ss44153241 Mar 15, 2006 (126)
4 AFFY ss66279502 Nov 30, 2006 (127)
5 PERLEGEN ss68845220 May 17, 2007 (127)
6 ILLUMINA ss74864780 Dec 07, 2007 (129)
7 AFFY ss75934971 Dec 08, 2007 (130)
8 KRIBB_YJKIM ss82903238 Dec 15, 2007 (130)
9 HUMANGENOME_JCVI ss97128052 Feb 04, 2009 (130)
10 ENSEMBL ss135947001 Dec 01, 2009 (131)
11 ILLUMINA ss159993091 Dec 01, 2009 (131)
12 AFFY ss169343699 Jul 04, 2010 (132)
13 ILLUMINA ss171430988 Jul 04, 2010 (132)
14 1000GENOMES ss219855007 Jul 14, 2010 (132)
15 1000GENOMES ss231615864 Jul 14, 2010 (132)
16 1000GENOMES ss239068124 Jul 15, 2010 (132)
17 ILLUMINA ss244273672 Jul 04, 2010 (132)
18 PJP ss292502075 May 09, 2011 (134)
19 ILLUMINA ss479562006 May 04, 2012 (137)
20 ILLUMINA ss479566282 May 04, 2012 (137)
21 ILLUMINA ss480038127 Sep 08, 2015 (146)
22 ILLUMINA ss484579892 May 04, 2012 (137)
23 1000GENOMES ss489855498 May 04, 2012 (137)
24 EXOME_CHIP ss491332431 May 04, 2012 (137)
25 CLINSEQ_SNP ss491801453 May 04, 2012 (137)
26 ILLUMINA ss536711565 Sep 08, 2015 (146)
27 TISHKOFF ss556272437 Apr 25, 2013 (138)
28 SSMP ss649934126 Apr 25, 2013 (138)
29 NHLBI-ESP ss712479143 Apr 25, 2013 (138)
30 ILLUMINA ss778689855 Aug 21, 2014 (142)
31 ILLUMINA ss780811233 Aug 21, 2014 (142)
32 ILLUMINA ss782736707 Aug 21, 2014 (142)
33 ILLUMINA ss783493114 Aug 21, 2014 (142)
34 ILLUMINA ss783703762 Aug 21, 2014 (142)
35 ILLUMINA ss831988555 Apr 01, 2015 (144)
36 ILLUMINA ss834148571 Aug 21, 2014 (142)
37 JMKIDD_LAB ss974446028 Aug 21, 2014 (142)
38 EVA-GONL ss978037506 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1067446024 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1069999128 Aug 21, 2014 (142)
41 1000GENOMES ss1301942881 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397322569 Sep 08, 2015 (146)
43 DDI ss1428934785 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1579353005 Apr 01, 2015 (144)
45 EVA_FINRISK ss1584024373 Apr 01, 2015 (144)
46 EVA_DECODE ss1587496453 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1605955885 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1648949918 Apr 01, 2015 (144)
49 EVA_EXAC ss1686768757 Apr 01, 2015 (144)
50 EVA_MGP ss1710999020 Apr 01, 2015 (144)
51 EVA_SVP ss1712536470 Apr 01, 2015 (144)
52 ILLUMINA ss1752342564 Sep 08, 2015 (146)
53 ILLUMINA ss1752342565 Sep 08, 2015 (146)
54 HAMMER_LAB ss1798483891 Sep 08, 2015 (146)
55 ILLUMINA ss1917760817 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1921283289 Feb 12, 2016 (147)
57 ILLUMINA ss1946068535 Feb 12, 2016 (147)
58 ILLUMINA ss1946068536 Feb 12, 2016 (147)
59 ILLUMINA ss1958513240 Feb 12, 2016 (147)
60 ILLUMINA ss1958513241 Feb 12, 2016 (147)
61 GENOMED ss1969044214 Jul 19, 2016 (147)
62 JJLAB ss2021189786 Sep 14, 2016 (149)
63 USC_VALOUEV ss2149254315 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2239778139 Dec 20, 2016 (150)
65 ILLUMINA ss2633749162 Nov 08, 2017 (151)
66 GRF ss2703904293 Nov 08, 2017 (151)
67 ILLUMINA ss2710927794 Nov 08, 2017 (151)
68 GNOMAD ss2733384270 Nov 08, 2017 (151)
69 GNOMAD ss2746895210 Nov 08, 2017 (151)
70 GNOMAD ss2787170041 Nov 08, 2017 (151)
71 AFFY ss2985202161 Nov 08, 2017 (151)
72 SWEGEN ss2991477072 Nov 08, 2017 (151)
73 ILLUMINA ss3022077830 Nov 08, 2017 (151)
74 ILLUMINA ss3022077831 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3024354080 Nov 08, 2017 (151)
76 CSHL ss3344774730 Nov 08, 2017 (151)
77 ILLUMINA ss3625778000 Oct 11, 2018 (152)
78 ILLUMINA ss3628303246 Oct 11, 2018 (152)
79 ILLUMINA ss3628303247 Oct 11, 2018 (152)
80 ILLUMINA ss3631708666 Oct 11, 2018 (152)
81 ILLUMINA ss3633236890 Oct 11, 2018 (152)
82 ILLUMINA ss3633950183 Oct 11, 2018 (152)
83 ILLUMINA ss3634815751 Oct 11, 2018 (152)
84 ILLUMINA ss3634815752 Oct 11, 2018 (152)
85 ILLUMINA ss3635635573 Oct 11, 2018 (152)
86 ILLUMINA ss3636505645 Oct 11, 2018 (152)
87 ILLUMINA ss3637387600 Oct 11, 2018 (152)
88 ILLUMINA ss3638322828 Oct 11, 2018 (152)
89 ILLUMINA ss3640523050 Oct 11, 2018 (152)
90 ILLUMINA ss3640523051 Oct 11, 2018 (152)
91 ILLUMINA ss3643287169 Oct 11, 2018 (152)
92 ILLUMINA ss3644771219 Oct 11, 2018 (152)
93 ILLUMINA ss3644771220 Oct 11, 2018 (152)
94 OMUKHERJEE_ADBS ss3646279349 Oct 11, 2018 (152)
95 URBANLAB ss3647292200 Oct 11, 2018 (152)
96 ILLUMINA ss3652529339 Oct 11, 2018 (152)
97 ILLUMINA ss3652529340 Oct 11, 2018 (152)
98 ILLUMINA ss3653970072 Oct 11, 2018 (152)
99 EGCUT_WGS ss3659377195 Jul 13, 2019 (153)
100 EVA_DECODE ss3706170315 Jul 13, 2019 (153)
101 ILLUMINA ss3725880136 Jul 13, 2019 (153)
102 ACPOP ss3729436268 Jul 13, 2019 (153)
103 ILLUMINA ss3744191718 Jul 13, 2019 (153)
104 ILLUMINA ss3744488144 Jul 13, 2019 (153)
105 ILLUMINA ss3745115646 Jul 13, 2019 (153)
106 ILLUMINA ss3745115647 Jul 13, 2019 (153)
107 EVA ss3758175555 Jul 13, 2019 (153)
108 PAGE_CC ss3770992464 Jul 13, 2019 (153)
109 ILLUMINA ss3772612040 Jul 13, 2019 (153)
110 ILLUMINA ss3772612041 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3802538276 Jul 13, 2019 (153)
112 EVA ss3823862331 Apr 25, 2020 (154)
113 EVA ss3825620813 Apr 25, 2020 (154)
114 SGDP_PRJ ss3854749367 Apr 25, 2020 (154)
115 KRGDB ss3900483825 Apr 25, 2020 (154)
116 KOGIC ss3950232603 Apr 25, 2020 (154)
117 FSA-LAB ss3984204662 Apr 27, 2021 (155)
118 FSA-LAB ss3984204663 Apr 27, 2021 (155)
119 EVA ss3984958588 Apr 27, 2021 (155)
120 EVA ss3986021297 Apr 27, 2021 (155)
121 EVA ss3986217742 Apr 27, 2021 (155)
122 EVA ss4017053216 Apr 27, 2021 (155)
123 TOPMED ss4547243019 Apr 27, 2021 (155)
124 TOMMO_GENOMICS ss5156832480 Apr 27, 2021 (155)
125 EVA ss5236978883 Apr 27, 2021 (155)
126 EVA ss5237174147 Apr 27, 2021 (155)
127 EVA ss5237313362 Apr 27, 2021 (155)
128 EVA ss5237638259 Oct 13, 2022 (156)
129 1000G_HIGH_COVERAGE ss5252290478 Oct 13, 2022 (156)
130 TRAN_CS_UWATERLOO ss5314405101 Oct 13, 2022 (156)
131 EVA ss5314813739 Oct 13, 2022 (156)
132 EVA ss5336518225 Oct 13, 2022 (156)
133 HUGCELL_USP ss5451880588 Oct 13, 2022 (156)
134 EVA ss5506822742 Oct 13, 2022 (156)
135 1000G_HIGH_COVERAGE ss5529769508 Oct 13, 2022 (156)
136 SANFORD_IMAGENETICS ss5624474028 Oct 13, 2022 (156)
137 SANFORD_IMAGENETICS ss5631100708 Oct 13, 2022 (156)
138 TOMMO_GENOMICS ss5687814475 Oct 13, 2022 (156)
139 EVA ss5799562410 Oct 13, 2022 (156)
140 YY_MCH ss5803284063 Oct 13, 2022 (156)
141 EVA ss5821693543 Oct 13, 2022 (156)
142 EVA ss5847206745 Oct 13, 2022 (156)
143 EVA ss5847905889 Oct 13, 2022 (156)
144 EVA ss5848536973 Oct 13, 2022 (156)
145 EVA ss5852981668 Oct 13, 2022 (156)
146 EVA ss5935008997 Oct 13, 2022 (156)
147 EVA ss5957364119 Oct 13, 2022 (156)
148 EVA ss5979602443 Oct 13, 2022 (156)
149 EVA ss5981211501 Oct 13, 2022 (156)
150 1000Genomes NC_000002.11 - 228131169 Oct 11, 2018 (152)
151 1000Genomes_30x NC_000002.12 - 227266453 Oct 13, 2022 (156)
152 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 228131169 Oct 11, 2018 (152)
153 Chileans NC_000002.11 - 228131169 Apr 25, 2020 (154)
154 Genome-wide autozygosity in Daghestan NC_000002.10 - 227839413 Apr 25, 2020 (154)
155 Genetic variation in the Estonian population NC_000002.11 - 228131169 Oct 11, 2018 (152)
156 ExAC NC_000002.11 - 228131169 Oct 11, 2018 (152)
157 FINRISK NC_000002.11 - 228131169 Apr 25, 2020 (154)
158 The Danish reference pan genome NC_000002.11 - 228131169 Apr 25, 2020 (154)
159 gnomAD - Genomes NC_000002.12 - 227266453 Apr 27, 2021 (155)
160 gnomAD - Exomes NC_000002.11 - 228131169 Jul 13, 2019 (153)
161 GO Exome Sequencing Project NC_000002.11 - 228131169 Oct 11, 2018 (152)
162 Genome of the Netherlands Release 5 NC_000002.11 - 228131169 Apr 25, 2020 (154)
163 HapMap NC_000002.12 - 227266453 Apr 25, 2020 (154)
164 KOREAN population from KRGDB NC_000002.11 - 228131169 Apr 25, 2020 (154)
165 Korean Genome Project NC_000002.12 - 227266453 Apr 25, 2020 (154)
166 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 228131169 Apr 25, 2020 (154)
167 Northern Sweden NC_000002.11 - 228131169 Jul 13, 2019 (153)
168 The PAGE Study NC_000002.12 - 227266453 Jul 13, 2019 (153)
169 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 228131169 Apr 27, 2021 (155)
170 Qatari NC_000002.11 - 228131169 Apr 25, 2020 (154)
171 SGDP_PRJ NC_000002.11 - 228131169 Apr 25, 2020 (154)
172 Siberian NC_000002.11 - 228131169 Apr 25, 2020 (154)
173 8.3KJPN NC_000002.11 - 228131169 Apr 27, 2021 (155)
174 14KJPN NC_000002.12 - 227266453 Oct 13, 2022 (156)
175 TopMed NC_000002.12 - 227266453 Apr 27, 2021 (155)
176 UK 10K study - Twins NC_000002.11 - 228131169 Oct 11, 2018 (152)
177 A Vietnamese Genetic Variation Database NC_000002.11 - 228131169 Jul 13, 2019 (153)
178 ALFA NC_000002.12 - 227266453 Apr 27, 2021 (155)
179 ClinVar RCV000244910.9 Oct 13, 2022 (156)
180 ClinVar RCV000357978.4 Oct 13, 2022 (156)
181 ClinVar RCV000710808.5 Oct 13, 2022 (156)
182 ClinVar RCV001527244.2 Oct 13, 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)
rs56438970 May 23, 2008 (130)
rs58683803 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5981211501 NC_000002.11:228131168:A:C NC_000002.12:227266452:A:C
272315, ss66279502, ss75934971, ss159993091, ss169343699, ss244273672, ss292502075, ss479562006, ss491801453, ss1397322569, ss1587496453, ss1712536470, ss3643287169 NC_000002.10:227839412:A:G NC_000002.12:227266452:A:G (self)
13059014, 7230289, 244817, 5115443, 6675702, 20834, 5517944, 2451751, 320731, 3167857, 7661219, 115559, 2721133, 184515, 3325219, 6766347, 1770669, 14801787, 7230289, 1570456, ss219855007, ss231615864, ss239068124, ss479566282, ss480038127, ss484579892, ss489855498, ss491332431, ss536711565, ss556272437, ss649934126, ss712479143, ss778689855, ss780811233, ss782736707, ss783493114, ss783703762, ss831988555, ss834148571, ss974446028, ss978037506, ss1067446024, ss1069999128, ss1301942881, ss1428934785, ss1579353005, ss1584024373, ss1605955885, ss1648949918, ss1686768757, ss1710999020, ss1752342564, ss1752342565, ss1798483891, ss1917760817, ss1921283289, ss1946068535, ss1946068536, ss1958513240, ss1958513241, ss1969044214, ss2021189786, ss2149254315, ss2633749162, ss2703904293, ss2710927794, ss2733384270, ss2746895210, ss2787170041, ss2985202161, ss2991477072, ss3022077830, ss3022077831, ss3344774730, ss3625778000, ss3628303246, ss3628303247, ss3631708666, ss3633236890, ss3633950183, ss3634815751, ss3634815752, ss3635635573, ss3636505645, ss3637387600, ss3638322828, ss3640523050, ss3640523051, ss3644771219, ss3644771220, ss3646279349, ss3652529339, ss3652529340, ss3653970072, ss3659377195, ss3729436268, ss3744191718, ss3744488144, ss3745115646, ss3745115647, ss3758175555, ss3772612040, ss3772612041, ss3823862331, ss3825620813, ss3854749367, ss3900483825, ss3984204662, ss3984204663, ss3984958588, ss3986021297, ss3986217742, ss4017053216, ss5156832480, ss5237313362, ss5314813739, ss5336518225, ss5506822742, ss5624474028, ss5631100708, ss5799562410, ss5821693543, ss5847206745, ss5847905889, ss5848536973, ss5957364119, ss5979602443, ss5981211501 NC_000002.11:228131168:A:G NC_000002.12:227266452:A:G (self)
RCV000244910.9, RCV000357978.4, RCV000710808.5, RCV001527244.2, 17295443, 93088666, 2026421, 6610604, 213933, 21651579, 351065898, 635804793, ss2239778139, ss3024354080, ss3647292200, ss3706170315, ss3725880136, ss3770992464, ss3802538276, ss3950232603, ss4547243019, ss5236978883, ss5237174147, ss5237638259, ss5252290478, ss5314405101, ss5451880588, ss5529769508, ss5687814475, ss5803284063, ss5852981668, ss5935008997 NC_000002.12:227266452:A:G NC_000002.12:227266452:A:G (self)
ss16823500, ss21631961 NT_005403.14:78340580:A:G NC_000002.12:227266452:A:G (self)
ss44153241, ss68845220, ss74864780, ss82903238, ss97128052, ss135947001, ss171430988 NT_005403.17:78340586:A:G NC_000002.12:227266452:A:G (self)
Help

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

3 citations for rs11677877
PMID Title Author Year Journal
18385178 Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD. Kim KM et al. 2008 The European respiratory journal
20029656 Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Stabuc-Silih M et al. 2009 Molecular vision
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