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rs63751624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(C;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar


Make rs63751624(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480871
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751624
dbSNP (classic)rs63751624
ClinGenrs63751624
ebirs63751624
HLIrs63751624
Exacrs63751624
Gnomadrs63751624
Varsomers63751624
LitVarrs63751624
Maprs63751624
PheGenIrs63751624
Biobankrs63751624
1000 genomesrs63751624
hgdprs63751624
ensemblrs63751624
geneviewrs63751624
scholarrs63751624
googlers63751624
pharmgkbrs63751624
gwascentralrs63751624
openSNPrs63751624
23andMers63751624
SNPshotrs63751624
SNPdbers63751624
MSV3drs63751624
GWAS Ctlgrs63751624
Max Magnitude6
ClinVar
Risk rs63751624(A;A) rs63751624(C;C)
Alt rs63751624(A;A) rs63751624(C;C)
Reference Rs63751624(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47708010G>A; NC_000002.11:g.47708010G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076523.2, RCV000491856.1, RCV000076524.2,