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rs121912652

From SNPedia

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


Make rs121912652(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674191
GeneTP53
is asnp
is mentioned by
dbSNPrs121912652
ebirs121912652
HLIrs121912652
Exacrs121912652
Varsomers121912652
Maprs121912652
PheGenIrs121912652
hapmaprs121912652
1000 genomesrs121912652
hgdprs121912652
ensemblrs121912652
gopubmedrs121912652
geneviewrs121912652
scholarrs121912652
googlers121912652
pharmgkbrs121912652
gwascentralrs121912652
openSNPrs121912652
23andMers121912652
23andMe allrs121912652
SNP Nexus

SNPshotrs121912652
SNPdbers121912652
MSV3drs121912652
GWAS Ctlgrs121912652
Max Magnitude6
OMIM191170
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912652(A;A)
Alt rs121912652(A;A)
Reference rs121912652(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.7577509C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013141.23, RCV000161071.1,