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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.

rs113897932

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:95845106 (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=0.015520 (4108/264690, TOPMED)
T=0.016712 (4196/251082, GnomAD_exome)
T=0.016188 (2270/140228, GnomAD) (+ 16 more)
T=0.017012 (2062/121210, ExAC)
T=0.02628 (1732/65906, ALFA)
T=0.01985 (258/12998, GO-ESP)
T=0.0055 (35/6404, 1000G_30x)
T=0.0062 (31/5008, 1000G)
T=0.0199 (89/4480, Estonian)
T=0.0293 (113/3854, ALSPAC)
T=0.0286 (106/3708, TWINSUK)
T=0.022 (22/998, GoNL)
T=0.013 (8/600, NorthernSweden)
T=0.030 (16/534, MGP)
T=0.003 (1/304, FINRISK)
T=0.009 (2/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.50 (6/12, SGDP_PRJ)
T=0.50 (6/12, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MTMR2 : Synonymous 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 82212 C=0.97470 T=0.02530
European Sub 63362 C=0.97153 T=0.02847
African Sub 8420 C=0.9951 T=0.0049
African Others Sub 306 C=1.000 T=0.000
African American Sub 8114 C=0.9949 T=0.0051
Asian Sub 216 C=1.000 T=0.000
East Asian Sub 158 C=1.000 T=0.000
Other Asian Sub 58 C=1.00 T=0.00
Latin American 1 Sub 508 C=0.992 T=0.008
Latin American 2 Sub 634 C=0.987 T=0.013
South Asian Sub 98 C=1.00 T=0.00
Other Sub 8974 C=0.9752 T=0.0248


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 C=0.984480 T=0.015520
gnomAD - Exomes Global Study-wide 251082 C=0.983288 T=0.016712
gnomAD - Exomes European Sub 135128 C=0.975468 T=0.024532
gnomAD - Exomes Asian Sub 48988 C=0.99869 T=0.00131
gnomAD - Exomes American Sub 34526 C=0.99273 T=0.00727
gnomAD - Exomes African Sub 16252 C=0.99569 T=0.00431
gnomAD - Exomes Ashkenazi Jewish Sub 10066 C=0.96354 T=0.03646
gnomAD - Exomes Other Sub 6122 C=0.9789 T=0.0211
gnomAD - Genomes Global Study-wide 140228 C=0.983812 T=0.016188
gnomAD - Genomes European Sub 75926 C=0.97607 T=0.02393
gnomAD - Genomes African Sub 42040 C=0.99543 T=0.00457
gnomAD - Genomes American Sub 13658 C=0.99209 T=0.00791
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9623 T=0.0377
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9870 T=0.0130
ExAC Global Study-wide 121210 C=0.982988 T=0.017012
ExAC Europe Sub 73288 C=0.97429 T=0.02571
ExAC Asian Sub 25128 C=0.99889 T=0.00111
ExAC American Sub 11484 C=0.99199 T=0.00801
ExAC African Sub 10404 C=0.99577 T=0.00423
ExAC Other Sub 906 C=0.985 T=0.015
Allele Frequency Aggregator Total Global 65906 C=0.97372 T=0.02628
Allele Frequency Aggregator European Sub 53322 C=0.97166 T=0.02834
Allele Frequency Aggregator Other Sub 7544 C=0.9753 T=0.0247
Allele Frequency Aggregator African Sub 3584 C=0.9936 T=0.0064
Allele Frequency Aggregator Latin American 2 Sub 634 C=0.987 T=0.013
Allele Frequency Aggregator Latin American 1 Sub 508 C=0.992 T=0.008
Allele Frequency Aggregator Asian Sub 216 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 12998 C=0.98015 T=0.01985
GO Exome Sequencing Project European American Sub 8596 C=0.9722 T=0.0278
GO Exome Sequencing Project African American Sub 4402 C=0.9957 T=0.0043
1000Genomes_30x Global Study-wide 6404 C=0.9945 T=0.0055
1000Genomes_30x African Sub 1786 C=0.9983 T=0.0017
1000Genomes_30x Europe Sub 1266 C=0.9787 T=0.0213
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.995 T=0.005
1000Genomes Global Study-wide 5008 C=0.9938 T=0.0062
1000Genomes African Sub 1322 C=0.9977 T=0.0023
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9761 T=0.0239
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.994 T=0.006
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9801 T=0.0199
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9707 T=0.0293
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9714 T=0.0286
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.978 T=0.022
Northern Sweden ACPOP Study-wide 600 C=0.987 T=0.013
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.970 T=0.030
FINRISK Finnish from FINRISK project Study-wide 304 C=0.997 T=0.003
Qatari Global Study-wide 216 C=0.991 T=0.009
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
SGDP_PRJ Global Study-wide 12 C=0.50 T=0.50
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 11 NC_000011.10:g.95845106C>A
GRCh38.p14 chr 11 NC_000011.10:g.95845106C>G
GRCh38.p14 chr 11 NC_000011.10:g.95845106C>T
GRCh37.p13 chr 11 NC_000011.9:g.95578270C>A
GRCh37.p13 chr 11 NC_000011.9:g.95578270C>G
GRCh37.p13 chr 11 NC_000011.9:g.95578270C>T
MTMR2 RefSeqGene (LRG_257) NG_008333.1:g.84102G>T
MTMR2 RefSeqGene (LRG_257) NG_008333.1:g.84102G>C
MTMR2 RefSeqGene (LRG_257) NG_008333.1:g.84102G>A
Gene: MTMR2, myotubularin related protein 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MTMR2 transcript variant 4 NM_001243571.2:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_001230500.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 4 NM_001243571.2:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_001230500.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 4 NM_001243571.2:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_001230500.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 3 NM_201281.3:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958438.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 3 NM_201281.3:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958438.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 3 NM_201281.3:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958438.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 2 NM_201278.3:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958435.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 2 NM_201278.3:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958435.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 2 NM_201278.3:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform 2 NP_958435.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 1 NM_016156.6:c.1233G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform 1 NP_057240.3:p.Thr411= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 1 NM_016156.6:c.1233G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform 1 NP_057240.3:p.Thr411= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant 1 NM_016156.6:c.1233G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform 1 NP_057240.3:p.Thr411= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X1 XM_047427805.1:c.1092G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform X1 XP_047283761.1:p.Thr364= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X1 XM_047427805.1:c.1092G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform X1 XP_047283761.1:p.Thr364= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X1 XM_047427805.1:c.1092G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform X1 XP_047283761.1:p.Thr364= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X2 XM_047427806.1:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283762.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X2 XM_047427806.1:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283762.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X2 XM_047427806.1:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283762.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X3 XM_047427807.1:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283763.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X3 XM_047427807.1:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283763.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X3 XM_047427807.1:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283763.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X4 XM_047427808.1:c.1017G>T T [ACG] > T [ACT] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283764.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X4 XM_047427808.1:c.1017G>C T [ACG] > T [ACC] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283764.1:p.Thr339= T (Thr) > T (Thr) Synonymous Variant
MTMR2 transcript variant X4 XM_047427808.1:c.1017G>A T [ACG] > T [ACA] Coding Sequence Variant
myotubularin-related protein 2 isoform X2 XP_047283764.1:p.Thr339= T (Thr) > T (Thr) 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: A (allele ID: 625718 )
ClinVar Accession Disease Names Clinical Significance
RCV000790243.1 not specified Benign
Allele: T (allele ID: 141974 )
ClinVar Accession Disease Names Clinical Significance
RCV000126849.2 not specified Benign
RCV000205300.12 Charcot-Marie-Tooth disease type 4 Benign
RCV000576743.9 Charcot-Marie-Tooth disease type 4B1 Benign
RCV001173030.1 Charcot-Marie-Tooth disease 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 11 NC_000011.10:g.95845106= NC_000011.10:g.95845106C>A NC_000011.10:g.95845106C>G NC_000011.10:g.95845106C>T
GRCh37.p13 chr 11 NC_000011.9:g.95578270= NC_000011.9:g.95578270C>A NC_000011.9:g.95578270C>G NC_000011.9:g.95578270C>T
MTMR2 RefSeqGene (LRG_257) NG_008333.1:g.84102= NG_008333.1:g.84102G>T NG_008333.1:g.84102G>C NG_008333.1:g.84102G>A
MTMR2 transcript variant 1 NM_016156.6:c.1233= NM_016156.6:c.1233G>T NM_016156.6:c.1233G>C NM_016156.6:c.1233G>A
MTMR2 transcript variant 1 NM_016156.5:c.1233= NM_016156.5:c.1233G>T NM_016156.5:c.1233G>C NM_016156.5:c.1233G>A
MTMR2 transcript variant 2 NM_201278.3:c.1017= NM_201278.3:c.1017G>T NM_201278.3:c.1017G>C NM_201278.3:c.1017G>A
MTMR2 transcript variant 2 NM_201278.2:c.1017= NM_201278.2:c.1017G>T NM_201278.2:c.1017G>C NM_201278.2:c.1017G>A
MTMR2 transcript variant 3 NM_201281.3:c.1017= NM_201281.3:c.1017G>T NM_201281.3:c.1017G>C NM_201281.3:c.1017G>A
MTMR2 transcript variant 3 NM_201281.2:c.1017= NM_201281.2:c.1017G>T NM_201281.2:c.1017G>C NM_201281.2:c.1017G>A
MTMR2 transcript variant 4 NM_001243571.2:c.1017= NM_001243571.2:c.1017G>T NM_001243571.2:c.1017G>C NM_001243571.2:c.1017G>A
MTMR2 transcript variant 4 NM_001243571.1:c.1017= NM_001243571.1:c.1017G>T NM_001243571.1:c.1017G>C NM_001243571.1:c.1017G>A
MTMR2 transcript variant 4 NR_023356.2:n.1753= NR_023356.2:n.1753G>T NR_023356.2:n.1753G>C NR_023356.2:n.1753G>A
MTMR2 transcript variant 2 NR_023354.1:n.1642= NR_023354.1:n.1642G>T NR_023354.1:n.1642G>C NR_023354.1:n.1642G>A
MTMR2 transcript variant 4 NR_023356.1:n.1592= NR_023356.1:n.1592G>T NR_023356.1:n.1592G>C NR_023356.1:n.1592G>A
MTMR2 transcript variant 3 NR_023355.1:n.1519= NR_023355.1:n.1519G>T NR_023355.1:n.1519G>C NR_023355.1:n.1519G>A
MTMR2 transcript variant X3 XM_047427807.1:c.1017= XM_047427807.1:c.1017G>T XM_047427807.1:c.1017G>C XM_047427807.1:c.1017G>A
MTMR2 transcript variant X2 XM_047427806.1:c.1017= XM_047427806.1:c.1017G>T XM_047427806.1:c.1017G>C XM_047427806.1:c.1017G>A
MTMR2 transcript variant X4 XM_047427808.1:c.1017= XM_047427808.1:c.1017G>T XM_047427808.1:c.1017G>C XM_047427808.1:c.1017G>A
MTMR2 transcript variant X1 XM_047427805.1:c.1092= XM_047427805.1:c.1092G>T XM_047427805.1:c.1092G>C XM_047427805.1:c.1092G>A
MTMR2 transcript NM_003912.1:c.1233= NM_003912.1:c.1233G>T NM_003912.1:c.1233G>C NM_003912.1:c.1233G>A
myotubularin-related protein 2 isoform 1 NP_057240.3:p.Thr411= NP_057240.3:p.Thr411= NP_057240.3:p.Thr411= NP_057240.3:p.Thr411=
myotubularin-related protein 2 isoform 2 NP_958435.1:p.Thr339= NP_958435.1:p.Thr339= NP_958435.1:p.Thr339= NP_958435.1:p.Thr339=
myotubularin-related protein 2 isoform 2 NP_958438.1:p.Thr339= NP_958438.1:p.Thr339= NP_958438.1:p.Thr339= NP_958438.1:p.Thr339=
myotubularin-related protein 2 isoform 2 NP_001230500.1:p.Thr339= NP_001230500.1:p.Thr339= NP_001230500.1:p.Thr339= NP_001230500.1:p.Thr339=
myotubularin-related protein 2 isoform X2 XP_047283763.1:p.Thr339= XP_047283763.1:p.Thr339= XP_047283763.1:p.Thr339= XP_047283763.1:p.Thr339=
myotubularin-related protein 2 isoform X2 XP_047283762.1:p.Thr339= XP_047283762.1:p.Thr339= XP_047283762.1:p.Thr339= XP_047283762.1:p.Thr339=
myotubularin-related protein 2 isoform X2 XP_047283764.1:p.Thr339= XP_047283764.1:p.Thr339= XP_047283764.1:p.Thr339= XP_047283764.1:p.Thr339=
myotubularin-related protein 2 isoform X1 XP_047283761.1:p.Thr364= XP_047283761.1:p.Thr364= XP_047283761.1:p.Thr364= XP_047283761.1:p.Thr364=
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#.

51 SubSNP, 18 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss168944383 Jul 04, 2010 (132)
2 BUSHMAN ss203067593 Jul 04, 2010 (132)
3 1000GENOMES ss217323368 Jul 14, 2010 (132)
4 1000GENOMES ss217421029 Jul 14, 2010 (132)
5 1000GENOMES ss336919741 May 09, 2011 (134)
6 NHLBI-ESP ss342338497 May 09, 2011 (134)
7 1000GENOMES ss491027422 May 04, 2012 (137)
8 CLINSEQ_SNP ss491652667 May 04, 2012 (137)
9 ILLUMINA ss534485383 Sep 08, 2015 (146)
10 EVA-GONL ss988841188 Aug 21, 2014 (142)
11 1000GENOMES ss1342514896 Aug 21, 2014 (142)
12 CLINVAR ss1457618422 Nov 23, 2014 (142)
13 EVA_GENOME_DK ss1575879297 Apr 01, 2015 (144)
14 EVA_FINRISK ss1584077560 Apr 01, 2015 (144)
15 EVA_DECODE ss1598504733 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1627221982 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1670216015 Apr 01, 2015 (144)
18 EVA_EXAC ss1690598108 Apr 01, 2015 (144)
19 EVA_MGP ss1711306033 Apr 01, 2015 (144)
20 WEILL_CORNELL_DGM ss1932203568 Feb 12, 2016 (147)
21 JJLAB ss2026844099 Sep 14, 2016 (149)
22 HUMAN_LONGEVITY ss2184771677 Dec 20, 2016 (150)
23 GNOMAD ss2739333917 Nov 08, 2017 (151)
24 GNOMAD ss2748723464 Nov 08, 2017 (151)
25 GNOMAD ss2903188177 Nov 08, 2017 (151)
26 SWEGEN ss3008597163 Nov 08, 2017 (151)
27 CSHL ss3349739248 Nov 08, 2017 (151)
28 ILLUMINA ss3626726572 Oct 12, 2018 (152)
29 ILLUMINA ss3637924118 Oct 12, 2018 (152)
30 EGCUT_WGS ss3675913937 Jul 13, 2019 (153)
31 EVA_DECODE ss3692382575 Jul 13, 2019 (153)
32 ACPOP ss3738440060 Jul 13, 2019 (153)
33 EVA ss3824664153 Apr 26, 2020 (154)
34 EVA ss3825807564 Apr 26, 2020 (154)
35 SGDP_PRJ ss3876904067 Apr 26, 2020 (154)
36 EVA ss3986542339 Apr 26, 2021 (155)
37 TOPMED ss4896031718 Apr 26, 2021 (155)
38 EVA ss5237658278 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5288508956 Oct 16, 2022 (156)
40 EVA ss5401528426 Oct 16, 2022 (156)
41 HUGCELL_USP ss5483540627 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5584786715 Oct 16, 2022 (156)
43 EVA ss5624024822 Oct 16, 2022 (156)
44 SANFORD_IMAGENETICS ss5624282486 Oct 16, 2022 (156)
45 SANFORD_IMAGENETICS ss5651844286 Oct 16, 2022 (156)
46 EVA ss5837072556 Oct 16, 2022 (156)
47 EVA ss5847644394 Oct 16, 2022 (156)
48 EVA ss5848335213 Oct 16, 2022 (156)
49 EVA ss5921204206 Oct 16, 2022 (156)
50 EVA ss5943164602 Oct 16, 2022 (156)
51 EVA ss5979368219 Oct 16, 2022 (156)
52 1000Genomes NC_000011.9 - 95578270 Oct 12, 2018 (152)
53 1000Genomes_30x NC_000011.10 - 95845106 Oct 16, 2022 (156)
54 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 95578270 Oct 12, 2018 (152)
55 Genetic variation in the Estonian population NC_000011.9 - 95578270 Oct 12, 2018 (152)
56 ExAC NC_000011.9 - 95578270 Oct 12, 2018 (152)
57 FINRISK NC_000011.9 - 95578270 Apr 26, 2020 (154)
58 The Danish reference pan genome NC_000011.9 - 95578270 Apr 26, 2020 (154)
59 gnomAD - Genomes NC_000011.10 - 95845106 Apr 26, 2021 (155)
60 gnomAD - Exomes NC_000011.9 - 95578270 Jul 13, 2019 (153)
61 GO Exome Sequencing Project NC_000011.9 - 95578270 Oct 12, 2018 (152)
62 Genome of the Netherlands Release 5 NC_000011.9 - 95578270 Apr 26, 2020 (154)
63 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 95578270 Apr 26, 2020 (154)
64 Northern Sweden NC_000011.9 - 95578270 Jul 13, 2019 (153)
65 Qatari NC_000011.9 - 95578270 Apr 26, 2020 (154)
66 SGDP_PRJ NC_000011.9 - 95578270 Apr 26, 2020 (154)
67 TopMed NC_000011.10 - 95845106 Apr 26, 2021 (155)
68 UK 10K study - Twins NC_000011.9 - 95578270 Oct 12, 2018 (152)
69 ALFA NC_000011.10 - 95845106 Apr 26, 2021 (155)
70 ClinVar RCV000126849.2 Apr 26, 2021 (155)
71 ClinVar RCV000205300.12 Oct 16, 2022 (156)
72 ClinVar RCV000576743.9 Oct 16, 2022 (156)
73 ClinVar RCV000790243.1 Apr 26, 2021 (155)
74 ClinVar RCV001173030.1 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000790243.1 NC_000011.10:95845105:C:A NC_000011.10:95845105:C:A (self)
ss203067593 NC_000011.8:95217917:C:G NC_000011.10:95845105:C:G (self)
ss217323368, ss217421029, ss491652667, ss1598504733 NC_000011.8:95217917:C:T NC_000011.10:95845105:C:T (self)
55080098, 30567501, 21652185, 870988, 74021, 2686143, 8550981, 1121701, 13640803, 421793, 11724925, 14245498, 28921047, 30567501, ss336919741, ss342338497, ss491027422, ss534485383, ss988841188, ss1342514896, ss1575879297, ss1584077560, ss1627221982, ss1670216015, ss1690598108, ss1711306033, ss1932203568, ss2026844099, ss2739333917, ss2748723464, ss2903188177, ss3008597163, ss3349739248, ss3626726572, ss3637924118, ss3675913937, ss3738440060, ss3824664153, ss3825807564, ss3876904067, ss3986542339, ss5401528426, ss5624024822, ss5624282486, ss5651844286, ss5837072556, ss5847644394, ss5848335213, ss5943164602, ss5979368219 NC_000011.9:95578269:C:T NC_000011.10:95845105:C:T (self)
RCV000126849.2, RCV000205300.12, RCV000576743.9, RCV001173030.1, 72312650, 388715038, 111577374, 5132937682, ss1457618422, ss2184771677, ss3692382575, ss4896031718, ss5237658278, ss5288508956, ss5483540627, ss5584786715, ss5921204206 NC_000011.10:95845105:C:T NC_000011.10:95845105:C:T (self)
ss168944383 NT_167190.1:40884064:C:T NC_000011.10:95845105: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.

No publications for rs113897932

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