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rs63750582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
Make rs63750582(G;T)
Make rs63750582(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410217
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750582
dbSNP (classic)rs63750582
ClinGenrs63750582
ebirs63750582
HLIrs63750582
Exacrs63750582
Gnomadrs63750582
Varsomers63750582
LitVarrs63750582
Maprs63750582
PheGenIrs63750582
Biobankrs63750582
1000 genomesrs63750582
hgdprs63750582
ensemblrs63750582
geneviewrs63750582
scholarrs63750582
googlers63750582
pharmgkbrs63750582
gwascentralrs63750582
openSNPrs63750582
23andMers63750582
SNPshotrs63750582
SNPdbers63750582
MSV3drs63750582
GWAS Ctlgrs63750582
Max Magnitude6
ClinVar
Risk rs63750582(A;A) rs63750582(T;T)
Alt rs63750582(A;A) rs63750582(T;T)
Reference Rs63750582(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000002.11:g.47637356G>A; NC_000002.11:g.47637356G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000076612.2, RCV000491974.1, RCV000076613.2, RCV000168725.2, RCV000491255.1,