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

rs121912663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
Make rs121912663(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7673745
GeneTP53
is asnp
is mentioned by
dbSNPrs121912663
ebirs121912663
HLIrs121912663
Exacrs121912663
Varsomers121912663
Maprs121912663
PheGenIrs121912663
hapmaprs121912663
1000 genomesrs121912663
hgdprs121912663
ensemblrs121912663
gopubmedrs121912663
geneviewrs121912663
scholarrs121912663
googlers121912663
pharmgkbrs121912663
gwascentralrs121912663
openSNPrs121912663
23andMers121912663
23andMe allrs121912663
SNP Nexus

SNPshotrs121912663
SNPdbers121912663
MSV3drs121912663
GWAS Ctlgrs121912663
Max Magnitude6
OMIM191170
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121912663(T;T)
Alt rs121912663(T;T)
Reference rs121912663(A;A)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1
Reversed 1
HGVS NC_000017.10:g.7577063T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013177.20,