rs138608489

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs138608489(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43076504

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs138608489
dbSNP (classic)	rs138608489
ClinGen	rs138608489
ebi	rs138608489
HLI	rs138608489
Exac	rs138608489
Gnomad	rs138608489
Varsome	rs138608489
LitVar	rs138608489
Map	rs138608489
PheGenI	rs138608489
Biobank	rs138608489
1000 genomes	rs138608489
hgdp	rs138608489
ensembl	rs138608489
geneview	rs138608489
scholar	rs138608489
google	rs138608489
pharmgkb	rs138608489
gwascentral	rs138608489
openSNP	rs138608489
23andMe	rs138608489
SNPshot	rs138608489
SNPdbe	rs138608489
MSV3d	rs138608489
GWAS Ctlg	rs138608489

Max Magnitude

6

c.4468G>T (p.Glu1490Ter)

ClinVar
Risk	rs138608489(A;A)
Alt	rs138608489(A;A)
Reference	Rs138608489(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	0
HGVS	NC_000017.10:g.41228521C>A
CLNSRC
CLNACC	RCV000149887.1, RCV000241381.1,

ClinVar
Risk	rs138608489(A;A)
Alt	rs138608489(A;A)
Reference	Rs138608489(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	0
HGVS	NC_000017.10:g.41228521C>A
CLNSRC
CLNACC	RCV000149887.2, RCV000241381.1,