rs397508959

minus

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

Make rs397508959(-;A)

Make rs397508959(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093205

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508959
dbSNP (classic)	rs397508959
ClinGen	rs397508959
ebi	rs397508959
HLI	rs397508959
Exac	rs397508959
Gnomad	rs397508959
Varsome	rs397508959
LitVar	rs397508959
Map	rs397508959
PheGenI	rs397508959
Biobank	rs397508959
1000 genomes	rs397508959
hgdp	rs397508959
ensembl	rs397508959
geneview	rs397508959
scholar	rs397508959
google	rs397508959
pharmgkb	rs397508959
gwascentral	rs397508959
openSNP	rs397508959
23andMe	rs397508959
SNPshot	rs397508959
SNPdbe	rs397508959
MSV3d	rs397508959
GWAS Ctlg	rs397508959

Max Magnitude

0

aka c.2325_2326insA; pathogenicity not provided in ClinVar, but based on similarity to other BRCA1 gene mutations, this might be a breast cancer predisposing mutation

ClinVar
Risk	rs397508959(A;A)
Alt	rs397508959(A;A)
Reference	Rs397508959(-;-)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41245222_41245223insT
CLNSRC	ClinVar
CLNACC	RCV000047800.2,