rs112431538

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.5	Li-Fraumeni cancer-predisposing syndrome

Make rs112431538(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

7673767

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs112431538
dbSNP (classic)	rs112431538
ClinGen	rs112431538
ebi	rs112431538
HLI	rs112431538
Exac	rs112431538
Gnomad	rs112431538
Varsome	rs112431538
LitVar	rs112431538
Map	rs112431538
PheGenI	rs112431538
Biobank	rs112431538
1000 genomes	rs112431538
hgdp	rs112431538
ensembl	rs112431538
geneview	rs112431538
scholar	rs112431538
google	rs112431538
pharmgkb	rs112431538
gwascentral	rs112431538
openSNP	rs112431538
23andMe	rs112431538
SNPshot	rs112431538
SNPdbe	rs112431538
MSV3d	rs112431538
GWAS Ctlg	rs112431538

Max Magnitude

5.5

aka c.853G>A, p.Glu285Lys or E285K

ClinVar
Risk	rs112431538(T;T)
Alt	rs112431538(T;T)
Reference	Rs112431538(C;C)
Significance	Probable-Pathogenic
Disease	not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	TP53
CLNDBN	not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000017.10:g.7577085C>T
CLNSRC
CLNACC	RCV000479542.1, RCV000492206.1,