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rs121434630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434630(A;A)
Make rs121434630(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position6004003
GenePMS2
is asnp
is mentioned by
dbSNPrs121434630
ebirs121434630
HLIrs121434630
Exacrs121434630
Varsomers121434630
Maprs121434630
PheGenIrs121434630
hapmaprs121434630
1000 genomesrs121434630
hgdprs121434630
ensemblrs121434630
gopubmedrs121434630
geneviewrs121434630
scholarrs121434630
googlers121434630
pharmgkbrs121434630
gwascentralrs121434630
openSNPrs121434630
23andMers121434630
23andMe allrs121434630
SNP Nexus

SNPshotrs121434630
SNPdbers121434630
MSV3drs121434630
GWAS Ctlgrs121434630
Max Magnitude0
OMIM600259
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121434630(A;A)
Alt rs121434630(A;A)
Reference rs121434630(T;T)
Significance Pathogenic
Disease Turcot syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome
Reversed 1
HGVS NC_000007.13:g.6043634A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009830.3,