rs483353108

Orientation

plus

Stabilized

plus

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

Make rs483353108(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094697

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs483353108
dbSNP (classic)	rs483353108
ClinGen	rs483353108
ebi	rs483353108
HLI	rs483353108
Exac	rs483353108
Gnomad	rs483353108
Varsome	rs483353108
LitVar	rs483353108
Map	rs483353108
PheGenI	rs483353108
Biobank	rs483353108
1000 genomes	rs483353108
hgdp	rs483353108
ensembl	rs483353108
geneview	rs483353108
scholar	rs483353108
google	rs483353108
pharmgkb	rs483353108
gwascentral	rs483353108
openSNP	rs483353108
23andMe	rs483353108
SNPshot	rs483353108
SNPdbe	rs483353108
MSV3d	rs483353108
GWAS Ctlg	rs483353108

Max Magnitude

6

BRCA1, c.833_834insA (p.His279Serfs)

ClinVar
Risk	rs483353108(T;T)
Alt	rs483353108(T;T)
Reference	Rs483353108(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	0
HGVS	NC_000017.10:g.41246714_41246715insT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112798.1,