rs2287498

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2287498(A;A)

Make rs2287498(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7689242

Gene	TP53, WRAP53

is a	snp
is	mentioned by
dbSNP	rs2287498
dbSNP (classic)	rs2287498
ClinGen	rs2287498
ebi	rs2287498
HLI	rs2287498
Exac	rs2287498
Gnomad	rs2287498
Varsome	rs2287498
LitVar	rs2287498
Map	rs2287498
PheGenI	rs2287498
Biobank	rs2287498
1000 genomes	rs2287498
hgdp	rs2287498
ensembl	rs2287498
geneview	rs2287498
scholar	rs2287498
google	rs2287498
pharmgkb	rs2287498
gwascentral	rs2287498
openSNP	rs2287498
23andMe	rs2287498
SNPshot	rs2287498
SNPdbe	rs2287498
MSV3d	rs2287498
GWAS Ctlg	rs2287498

GMAF

0.1837

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

A study population including a total of 5,206 invasive ovarian cancer cases (2,829 of which were serous) and 8,790 controls found an association between rs2287498 and serous invasive cancer (median per allele odds ratio 1.30, CI: 1.07-1.57).[PMID 19276375 ]

[PMID 20386703 ] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

[PMID 23192612 ] Association of common WRAP 53 variant with ovarian cancer risk in the Polish population

[PMID 22773013 ] Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.

ClinVar
Risk	rs2287498(A;A)
Alt	rs2287498(A;A)
Reference	Rs2287498(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Li-Fraumeni syndrome Dyskeratosis Congenita
Variation	info
Gene	TP53 WRAP53
CLNDBN	not specified Li-Fraumeni syndrome Dyskeratosis Congenita, Recessive
Reversed	1
HGVS	NC_000017.10:g.7592560C>T
CLNSRC
CLNACC	RCV000250737.1, RCV000319448.1, RCV000350559.1,

[PMID 31387111 ] Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.