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

rs63751422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751422(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5986838
GenePMS2
is asnp
is mentioned by
dbSNPrs63751422
dbSNP (classic)rs63751422
ClinGenrs63751422
ebirs63751422
HLIrs63751422
Exacrs63751422
Gnomadrs63751422
Varsomers63751422
LitVarrs63751422
Maprs63751422
PheGenIrs63751422
Biobankrs63751422
1000 genomesrs63751422
hgdprs63751422
ensemblrs63751422
geneviewrs63751422
scholarrs63751422
googlers63751422
pharmgkbrs63751422
gwascentralrs63751422
openSNPrs63751422
23andMers63751422
SNPshotrs63751422
SNPdbers63751422
MSV3drs63751422
GWAS Ctlgrs63751422
Max Magnitude6
ClinVar
Risk rs63751422(T;T)
Alt rs63751422(T;T)
Reference Rs63751422(C;C)
Significance Pathogenic
Disease Lynch syndrome Turcot syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome Turcot syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6026469G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076835.2, RCV000148733.1, RCV000164116.1, RCV000223612.1,