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rs267608161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608161(A;A)
Make rs267608161(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position5982885
GenePMS2
is asnp
is mentioned by
dbSNPrs267608161
ebirs267608161
HLIrs267608161
Exacrs267608161
Varsomers267608161
Maprs267608161
PheGenIrs267608161
hapmaprs267608161
1000 genomesrs267608161
hgdprs267608161
ensemblrs267608161
gopubmedrs267608161
geneviewrs267608161
scholarrs267608161
googlers267608161
pharmgkbrs267608161
gwascentralrs267608161
openSNPrs267608161
23andMers267608161
23andMe allrs267608161
SNP Nexus

SNPshotrs267608161
SNPdbers267608161
MSV3drs267608161
GWAS Ctlgrs267608161
Max Magnitude0
ClinVar
Risk rs267608161(A;A)
Alt rs267608161(A;A)
Reference rs267608161(G;G)
Significance Pathogenic
Disease Lynch syndrome not provided Lynch syndrome I Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided Lynch syndrome I Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6022516C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076843.2, RCV000115674.2, RCV000144654.1, RCV000223542.1,