rs398122627

Orientation

minus

Stabilized

minus

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

Make rs398122627(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094438

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs398122627
dbSNP (classic)	rs398122627
ClinGen	rs398122627
ebi	rs398122627
HLI	rs398122627
Exac	rs398122627
Gnomad	rs398122627
Varsome	rs398122627
LitVar	rs398122627
Map	rs398122627
PheGenI	rs398122627
Biobank	rs398122627
1000 genomes	rs398122627
hgdp	rs398122627
ensembl	rs398122627
geneview	rs398122627
scholar	rs398122627
google	rs398122627
pharmgkb	rs398122627
gwascentral	rs398122627
openSNP	rs398122627
23andMe	rs398122627
SNPshot	rs398122627
SNPdbe	rs398122627
MSV3d	rs398122627
GWAS Ctlg	rs398122627

Max Magnitude

6

aka c.1093A>T, p.Arg365Ter or R365X

ClinVar
Risk	rs398122627(T;T)
Alt	rs398122627(T;T)
Reference	Rs398122627(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246455T>A
CLNSRC	ClinVar
CLNACC	RCV000077057.3,