rs200078639

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs200078639(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

13

Position

32354916

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs200078639
dbSNP (classic)	rs200078639
ClinGen	rs200078639
ebi	rs200078639
HLI	rs200078639
Exac	rs200078639
Gnomad	rs200078639
Varsome	rs200078639
LitVar	rs200078639
Map	rs200078639
PheGenI	rs200078639
Biobank	rs200078639
1000 genomes	rs200078639
hgdp	rs200078639
ensembl	rs200078639
geneview	rs200078639
scholar	rs200078639
google	rs200078639
pharmgkb	rs200078639
gwascentral	rs200078639
openSNP	rs200078639
23andMe	rs200078639
SNPshot	rs200078639
SNPdbe	rs200078639
MSV3d	rs200078639
GWAS Ctlg	rs200078639

Max Magnitude

6

aka c.7063G>T (p.Glu2355Ter)

ClinVar
Risk	rs200078639(A;A) rs200078639(T;T)
Alt	rs200078639(A;A) rs200078639(T;T)
Reference	Rs200078639(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32929053G>T
CLNSRC
CLNACC	RCV000241131.2,