rs574552037

plus

Geno	Mag	Summary
(C;G)	6	Increased cancer risk; ovarian cancer & related
(G;G)	0	common in clinvar

Make rs574552037(A;A)

Make rs574552037(A;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

61716043

Gene

BRIP1

is a	snp
is	mentioned by
dbSNP	rs574552037
dbSNP (classic)	rs574552037
ClinGen	rs574552037
ebi	rs574552037
HLI	rs574552037
Exac	rs574552037
Gnomad	rs574552037
Varsome	rs574552037
LitVar	rs574552037
Map	rs574552037
PheGenI	rs574552037
Biobank	rs574552037
1000 genomes	rs574552037
hgdp	rs574552037
ensembl	rs574552037
geneview	rs574552037
scholar	rs574552037
google	rs574552037
pharmgkb	rs574552037
gwascentral	rs574552037
openSNP	rs574552037
23andMe	rs574552037
SNPshot	rs574552037
SNPdbe	rs574552037
MSV3d	rs574552037
GWAS Ctlg	rs574552037

Max Magnitude

6

aka c.2400C>G (p.Tyr800Ter or Y800X), and also c.2400C>T (p.Tyr800=); the former is considered in ClinVar to be pathogenic for ovarian cancer, while the latter is benign

ClinVar
Risk	rs574552037(A;A) rs574552037(C;C)
Alt	rs574552037(A;A) rs574552037(C;C)
Reference	Rs574552037(G;G)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia not provided
Variation	info
Gene	BRIP1
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group J not provided
Reversed	0
HGVS	NC_000017.10:g.59793404G>A; NC_000017.10:g.59793404G>C
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000164130.2, RCV000228308.2, RCV000131417.4, RCV000205848.2, RCV000254652.2,