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rs121912656

From SNPedia

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


Make rs121912656(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674229
GeneTP53
is asnp
is mentioned by
dbSNPrs121912656
ebirs121912656
HLIrs121912656
Exacrs121912656
Varsomers121912656
Maprs121912656
PheGenIrs121912656
hapmaprs121912656
1000 genomesrs121912656
hgdprs121912656
ensemblrs121912656
gopubmedrs121912656
geneviewrs121912656
scholarrs121912656
googlers121912656
pharmgkbrs121912656
gwascentralrs121912656
openSNPrs121912656
23andMers121912656
23andMe allrs121912656
SNP Nexus

SNPshotrs121912656
SNPdbers121912656
MSV3drs121912656
GWAS Ctlgrs121912656
Max Magnitude6
OMIM191170
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912656(A,T;A,T)
Alt rs121912656(A,T;A,T)
Reference rs121912656(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7577547C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013149.23, RCV000164465.1, RCV000206683.1,