rs748876625

Orientation

plus

Stabilized

plus

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

Make rs748876625(C;G)

Make rs748876625(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

43104122

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs748876625
dbSNP (classic)	rs748876625
ClinGen	rs748876625
ebi	rs748876625
HLI	rs748876625
Exac	rs748876625
Gnomad	rs748876625
Varsome	rs748876625
LitVar	rs748876625
Map	rs748876625
PheGenI	rs748876625
Biobank	rs748876625
1000 genomes	rs748876625
hgdp	rs748876625
ensembl	rs748876625
geneview	rs748876625
scholar	rs748876625
google	rs748876625
pharmgkb	rs748876625
gwascentral	rs748876625
openSNP	rs748876625
23andMe	rs748876625
SNPshot	rs748876625
SNPdbe	rs748876625
MSV3d	rs748876625
GWAS Ctlg	rs748876625

Max Magnitude

0

aka c.441G>T (p.Leu147Phe or L147F), or, c.441G>C

Both are annotated as of uncertain significance wrt breast cancer in ClinVar.

ClinVar
Risk	rs748876625(G;G)
Alt	rs748876625(G;G)
Reference	Rs748876625(C;C)
Significance	Probable-Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000017.10:g.41256139C>G
CLNSRC
CLNACC	RCV000204808.1, RCV000210978.1, RCV000221620.1,