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rs397516435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516435(C;T)
Make rs397516435(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674945
GeneTP53
is asnp
is mentioned by
dbSNPrs397516435
ebirs397516435
HLIrs397516435
Exacrs397516435
Varsomers397516435
Maprs397516435
PheGenIrs397516435
hapmaprs397516435
1000 genomesrs397516435
hgdprs397516435
ensemblrs397516435
gopubmedrs397516435
geneviewrs397516435
scholarrs397516435
googlers397516435
pharmgkbrs397516435
gwascentralrs397516435
openSNPrs397516435
23andMers397516435
23andMe allrs397516435
SNP Nexus

SNPshotrs397516435
SNPdbers397516435
MSV3drs397516435
GWAS Ctlgrs397516435
Max Magnitude0
ClinVar
Risk rs397516435(G,T;G,T)
Alt rs397516435(G,T;G,T)
Reference rs397516435(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.7578263G>A; NC_000017.10:g.7578263G>C
CLNSRC COSMIC
CLNACC RCV000131510.2, RCV000205265.3, RCV000217052.1, RCV000230517.1,