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rs121913344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Li-Fraumeni Syndrome (predicted)
Make rs121913344(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position7673704
GeneTP53
is asnp
is mentioned by
dbSNPrs121913344
dbSNP (classic)rs121913344
ClinGenrs121913344
ebirs121913344
HLIrs121913344
Exacrs121913344
Gnomadrs121913344
Varsomers121913344
LitVarrs121913344
Maprs121913344
PheGenIrs121913344
Biobankrs121913344
1000 genomesrs121913344
hgdprs121913344
ensemblrs121913344
geneviewrs121913344
scholarrs121913344
googlers121913344
pharmgkbrs121913344
gwascentralrs121913344
openSNPrs121913344
23andMers121913344
SNPshotrs121913344
SNPdbers121913344
MSV3drs121913344
GWAS Ctlgrs121913344
Max Magnitude7
ClinVar
Risk rs121913344(T;T)
Alt rs121913344(T;T)
Reference Rs121913344(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Head and Neck Neoplasms Colorectal Neoplasms
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Head and Neck Neoplasms Colorectal Neoplasms
Reversed 1
HGVS NC_000017.10:g.7577022G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000130997.4, RCV000232963.2, RCV000356380.1, RCV000422102.1, RCV000428901.1,