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rs121912667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 7 Li-Fraumeni Syndrome (predicted)
Make rs121912667(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7673766
GeneTP53
is asnp
is mentioned by
dbSNPrs121912667
dbSNP (classic)rs121912667
ClinGenrs121912667
ebirs121912667
HLIrs121912667
Exacrs121912667
Gnomadrs121912667
Varsomers121912667
LitVarrs121912667
Maprs121912667
PheGenIrs121912667
Biobankrs121912667
1000 genomesrs121912667
hgdprs121912667
ensemblrs121912667
geneviewrs121912667
scholarrs121912667
googlers121912667
pharmgkbrs121912667
gwascentralrs121912667
openSNPrs121912667
23andMers121912667
SNPshotrs121912667
SNPdbers121912667
MSV3drs121912667
GWAS Ctlgrs121912667
Max Magnitude7
OMIM191170
Desc
Variant0040
Relatedalso
ClinVar
Risk rs121912667(T;T)
Alt rs121912667(T;T)
Reference Rs121912667(A;A)
Significance Pathogenic
Disease Adrenocortical carcinoma Choroid plexus carcinoma
Variation info
Gene TP53
CLNDBN Adrenocortical carcinoma, pediatric Choroid plexus carcinoma
Reversed 1
HGVS NC_000017.10:g.7577084T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013184.21, RCV000013185.23,