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

rs267608172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608172(A;A)
Make rs267608172(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5982823
GenePMS2
is asnp
is mentioned by
dbSNPrs267608172
ebirs267608172
HLIrs267608172
Exacrs267608172
Varsomers267608172
Maprs267608172
PheGenIrs267608172
hapmaprs267608172
1000 genomesrs267608172
hgdprs267608172
ensemblrs267608172
gopubmedrs267608172
geneviewrs267608172
scholarrs267608172
googlers267608172
pharmgkbrs267608172
gwascentralrs267608172
openSNPrs267608172
23andMers267608172
23andMe allrs267608172
SNP Nexus

SNPshotrs267608172
SNPdbers267608172
MSV3drs267608172
GWAS Ctlgrs267608172
Max Magnitude0
ClinVar
Risk rs267608172(A,T;A,T)
Alt rs267608172(A,T;A,T)
Reference rs267608172(G;G)
Significance Pathogenic
Disease Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6022454C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076844.4, RCV000115677.2, RCV000218995.1,