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

rs121912653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
(T;T) 0 common in clinvar


Make rs121912653(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674208
GeneTP53
is asnp
is mentioned by
dbSNPrs121912653
ebirs121912653
HLIrs121912653
Exacrs121912653
Varsomers121912653
Maprs121912653
PheGenIrs121912653
hapmaprs121912653
1000 genomesrs121912653
hgdprs121912653
ensemblrs121912653
gopubmedrs121912653
geneviewrs121912653
scholarrs121912653
googlers121912653
pharmgkbrs121912653
gwascentralrs121912653
openSNPrs121912653
23andMers121912653
23andMe allrs121912653
SNP Nexus

SNPshotrs121912653
SNPdbers121912653
MSV3drs121912653
GWAS Ctlgrs121912653
Max Magnitude6
OMIM191170
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912653(C;C)
Alt rs121912653(C;C)
Reference rs121912653(T;T)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1
Reversed 1
HGVS NC_000017.10:g.7577526A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013143.20,