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rs121434629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434629(G;T)
Make rs121434629(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position6005918
GenePMS2
is asnp
is mentioned by
dbSNPrs121434629
ebirs121434629
HLIrs121434629
Exacrs121434629
Varsomers121434629
Maprs121434629
PheGenIrs121434629
hapmaprs121434629
1000 genomesrs121434629
hgdprs121434629
ensemblrs121434629
gopubmedrs121434629
geneviewrs121434629
scholarrs121434629
googlers121434629
pharmgkbrs121434629
gwascentralrs121434629
openSNPrs121434629
23andMers121434629
23andMe allrs121434629
SNP Nexus

SNPshotrs121434629
SNPdbers121434629
MSV3drs121434629
GWAS Ctlgrs121434629
Max Magnitude0
OMIM600259
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434629(A,T;A,T)
Alt rs121434629(A,T;A,T)
Reference rs121434629(G;G)
Significance Other
Disease Turcot syndrome Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2
CLNDBN Turcot syndrome Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6045549C>A; NC_000007.13:g.6045549C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009826.6, RCV000056324.4, RCV000076807.5, RCV000115657.7, RCV000200994.2, RCV000076806.2,