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rs483352695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7 Li-Fraumeni Syndrome (predicted)
Make rs483352695(A;G)
Make rs483352695(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position7674227
GeneTP53
is asnp
is mentioned by
dbSNPrs483352695
dbSNP (classic)rs483352695
ClinGenrs483352695
ebirs483352695
HLIrs483352695
Exacrs483352695
Gnomadrs483352695
Varsomers483352695
LitVarrs483352695
Maprs483352695
PheGenIrs483352695
Biobankrs483352695
1000 genomesrs483352695
hgdprs483352695
ensemblrs483352695
geneviewrs483352695
scholarrs483352695
googlers483352695
pharmgkbrs483352695
gwascentralrs483352695
openSNPrs483352695
23andMers483352695
SNPshotrs483352695
SNPdbers483352695
MSV3drs483352695
GWAS Ctlgrs483352695
Max Magnitude7
ClinVar
Risk rs483352695(C;C) rs483352695(G;G) rs483352695(T;T)
Alt rs483352695(C;C) rs483352695(G;G) rs483352695(T;T)
Reference Rs483352695(A;A)
Significance Pathogenic
Disease Li-Fraumeni syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.7577545T>A; NC_000017.10:g.7577545T>C; NC_000017.10:g.7577545T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000470073.1, RCV000087173.2, RCV000161036.3, RCV000460370.1, RCV000166380.1,