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rs63750329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTG;AGTG) 0 common in clinvar
(AGTG;TT) 6 Lynch syndrome, pathogenic mutation
Make rs63750329(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412531
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750329
dbSNP (classic)rs63750329
ClinGenrs63750329
ebirs63750329
HLIrs63750329
Exacrs63750329
Gnomadrs63750329
Varsomers63750329
LitVarrs63750329
Maprs63750329
PheGenIrs63750329
Biobankrs63750329
1000 genomesrs63750329
hgdprs63750329
ensemblrs63750329
geneviewrs63750329
scholarrs63750329
googlers63750329
pharmgkbrs63750329
gwascentralrs63750329
openSNPrs63750329
23andMers63750329
SNPshotrs63750329
SNPdbers63750329
MSV3drs63750329
GWAS Ctlgrs63750329
Max Magnitude6
ClinVar
Risk rs63750329(TT;TT)
Alt rs63750329(TT;TT)
Reference Rs63750329(AGTG;AGTG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639670_47639673delAGTGinsTT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076705.2,