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rs63750597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Likely miscall in 23andMe v4 or older data; otherwise, Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar


Make rs63750597(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47466808
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750597
dbSNP (classic)rs63750597
ClinGenrs63750597
ebirs63750597
HLIrs63750597
Exacrs63750597
Gnomadrs63750597
Varsomers63750597
LitVarrs63750597
Maprs63750597
PheGenIrs63750597
Biobankrs63750597
1000 genomesrs63750597
hgdprs63750597
ensemblrs63750597
geneviewrs63750597
scholarrs63750597
googlers63750597
pharmgkbrs63750597
gwascentralrs63750597
openSNPrs63750597
23andMers63750597
SNPshotrs63750597
SNPdbers63750597
MSV3drs63750597
GWAS Ctlgrs63750597
Max Magnitude6

aka c.1661G>C (p.Ser554Thr) more commonly as tested on DNA chips; but note that c.1661G>A (p.Ser554Asn) is also a known pathogenic mutation


ClinVar
Risk rs63750597(A;A) rs63750597(C;C)
Alt rs63750597(A;A) rs63750597(C;C)
Reference Rs63750597(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.47693947G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076221.2, RCV000491785.1,