rs397508978

Orientation

minus

Stabilized

minus

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

Make rs397508978(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092975

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508978
dbSNP (classic)	rs397508978
ClinGen	rs397508978
ebi	rs397508978
HLI	rs397508978
Exac	rs397508978
Gnomad	rs397508978
Varsome	rs397508978
LitVar	rs397508978
Map	rs397508978
PheGenI	rs397508978
Biobank	rs397508978
1000 genomes	rs397508978
hgdp	rs397508978
ensembl	rs397508978
geneview	rs397508978
scholar	rs397508978
google	rs397508978
pharmgkb	rs397508978
gwascentral	rs397508978
openSNP	rs397508978
23andMe	rs397508978
SNPshot	rs397508978
SNPdbe	rs397508978
MSV3d	rs397508978
GWAS Ctlg	rs397508978

Max Magnitude

6

aka c.787+1768dupT and also c.787+1769delT; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk	rs397508978(-;-)
Alt	rs397508978(-;-)
Reference	Rs397508978(T;T)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41244992delA
CLNSRC	ClinVar
CLNACC	RCV000047874.2,