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rs63750690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGACC;GGACC) 0 common in clinvar
(GGACC;TTA) 6 Lynch syndrome, pathogenic mutation
Make rs63750690(TTA;TTA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412485
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750690
dbSNP (classic)rs63750690
ClinGenrs63750690
ebirs63750690
HLIrs63750690
Exacrs63750690
Gnomadrs63750690
Varsomers63750690
LitVarrs63750690
Maprs63750690
PheGenIrs63750690
Biobankrs63750690
1000 genomesrs63750690
hgdprs63750690
ensemblrs63750690
geneviewrs63750690
scholarrs63750690
googlers63750690
pharmgkbrs63750690
gwascentralrs63750690
openSNPrs63750690
23andMers63750690
SNPshotrs63750690
SNPdbers63750690
MSV3drs63750690
GWAS Ctlgrs63750690
Max Magnitude6
ClinVar
Risk rs63750690(TTA;TTA)
Alt rs63750690(TTA;TTA)
Reference Rs63750690(GGACC;GGACC)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639624_47639628delGGACCinsTTA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076690.2,