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rs63749980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749980(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47798725
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749980
dbSNP (classic)rs63749980
ClinGenrs63749980
ebirs63749980
HLIrs63749980
Exacrs63749980
Gnomadrs63749980
Varsomers63749980
LitVarrs63749980
Maprs63749980
PheGenIrs63749980
Biobankrs63749980
1000 genomesrs63749980
hgdprs63749980
ensemblrs63749980
geneviewrs63749980
scholarrs63749980
googlers63749980
pharmgkbrs63749980
gwascentralrs63749980
openSNPrs63749980
23andMers63749980
SNPshotrs63749980
SNPdbers63749980
MSV3drs63749980
GWAS Ctlgrs63749980
Max Magnitude6
ClinVar
Risk rs63749980(A;A) rs63749980(G;G) rs63749980(T;T)
Alt rs63749980(A;A) rs63749980(G;G) rs63749980(T;T)
Reference Rs63749980(C;C)
Significance Pathogenic
Disease not specified Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Variation info
Gene MSH6
CLNDBN not specified Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48025864C>G; NC_000002.11:g.48025864C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000178052.1, RCV000215538.1, RCV000226497.2, RCV000075032.3, RCV000486750.1, RCV000490932.1,