Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750258(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800966
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750258
dbSNP (classic)rs63750258
ClinGenrs63750258
ebirs63750258
HLIrs63750258
Exacrs63750258
Gnomadrs63750258
Varsomers63750258
LitVarrs63750258
Maprs63750258
PheGenIrs63750258
Biobankrs63750258
1000 genomesrs63750258
hgdprs63750258
ensemblrs63750258
geneviewrs63750258
scholarrs63750258
googlers63750258
pharmgkbrs63750258
gwascentralrs63750258
openSNPrs63750258
23andMers63750258
SNPshotrs63750258
SNPdbers63750258
MSV3drs63750258
GWAS Ctlgrs63750258
Max Magnitude6
ClinVar
Risk rs63750258(A;A) rs63750258(T;T)
Alt rs63750258(A;A) rs63750258(T;T)
Reference Rs63750258(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48028105G>A; NC_000002.11:g.48028105G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000218455.1, RCV000467310.1, RCV000074793.2, RCV000491673.1,