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rs121912662

From SNPedia

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


Make rs121912662(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7670678
GeneTP53
is asnp
is mentioned by
dbSNPrs121912662
ebirs121912662
HLIrs121912662
Exacrs121912662
Varsomers121912662
Maprs121912662
PheGenIrs121912662
hapmaprs121912662
1000 genomesrs121912662
hgdprs121912662
ensemblrs121912662
gopubmedrs121912662
geneviewrs121912662
scholarrs121912662
googlers121912662
pharmgkbrs121912662
gwascentralrs121912662
openSNPrs121912662
23andMers121912662
23andMe allrs121912662
SNP Nexus

SNPshotrs121912662
SNPdbers121912662
MSV3drs121912662
GWAS Ctlgrs121912662
Max Magnitude6
OMIM191170
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121912662(C;C)
Alt rs121912662(C;C)
Reference rs121912662(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.7573996A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013174.24,