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rs63750611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750611(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429854
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750611
dbSNP (classic)rs63750611
ClinGenrs63750611
ebirs63750611
HLIrs63750611
Exacrs63750611
Gnomadrs63750611
Varsomers63750611
LitVarrs63750611
Maprs63750611
PheGenIrs63750611
Biobankrs63750611
1000 genomesrs63750611
hgdprs63750611
ensemblrs63750611
geneviewrs63750611
scholarrs63750611
googlers63750611
pharmgkbrs63750611
gwascentralrs63750611
openSNPrs63750611
23andMers63750611
SNPshotrs63750611
SNPdbers63750611
MSV3drs63750611
GWAS Ctlgrs63750611
Max Magnitude6
ClinVar
Risk rs63750611(G;G) rs63750611(T;T)
Alt rs63750611(G;G) rs63750611(T;T)
Reference Rs63750611(C;C)
Significance Pathogenic
Disease not specified Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN not specified Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47656993C>G; NC_000002.11:g.47656993C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000160634.3, RCV000233011.1, RCV000491315.1, RCV000076055.2,