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

rs63750111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs63750111(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800914
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750111
dbSNP (classic)rs63750111
ClinGenrs63750111
ebirs63750111
HLIrs63750111
Exacrs63750111
Gnomadrs63750111
Varsomers63750111
LitVarrs63750111
Maprs63750111
PheGenIrs63750111
Biobankrs63750111
1000 genomesrs63750111
hgdprs63750111
ensemblrs63750111
geneviewrs63750111
scholarrs63750111
googlers63750111
pharmgkbrs63750111
gwascentralrs63750111
openSNPrs63750111
23andMers63750111
SNPshotrs63750111
SNPdbers63750111
MSV3drs63750111
GWAS Ctlgrs63750111
Max Magnitude6
ClinVar
Risk rs63750111(G;G)
Alt rs63750111(G;G)
Reference Rs63750111(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48028053C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074788.2, RCV000491868.1,