rs797045175

Orientation

minus

Stabilized

minus

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

Make rs797045175(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

43095919

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs797045175
dbSNP (classic)	rs797045175
ClinGen	rs797045175
ebi	rs797045175
HLI	rs797045175
Exac	rs797045175
Gnomad	rs797045175
Varsome	rs797045175
LitVar	rs797045175
Map	rs797045175
PheGenI	rs797045175
Biobank	rs797045175
1000 genomes	rs797045175
hgdp	rs797045175
ensembl	rs797045175
geneview	rs797045175
scholar	rs797045175
google	rs797045175
pharmgkb	rs797045175
gwascentral	rs797045175
openSNP	rs797045175
23andMe	rs797045175
SNPshot	rs797045175
SNPdbe	rs797045175
MSV3d	rs797045175
GWAS Ctlg	rs797045175

Max Magnitude

6

aka c.594_597delTGTG

ClinVar
Risk	rs797045175(-;-)
Alt	rs797045175(-;-)
Reference	Rs797045175(TGTG;TGTG)
Significance	Pathogenic
Disease	Fanconi anemia Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Fanconi anemia, complementation group A Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41247936_41247939delCACA
CLNSRC
CLNACC	RCV000191042.1, RCV000258289.1,