rs1800747

minus

Geno	Mag	Summary
(A;G)	6	BRCA1 pathogenic mutation associated with breast cancer
(C;C)	0
(C;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs1800747(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063952

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs1800747
dbSNP (classic)	rs1800747
ClinGen	rs1800747
ebi	rs1800747
HLI	rs1800747
Exac	rs1800747
Gnomad	rs1800747
Varsome	rs1800747
LitVar	rs1800747
Map	rs1800747
PheGenI	rs1800747
Biobank	rs1800747
1000 genomes	rs1800747
hgdp	rs1800747
ensembl	rs1800747
geneview	rs1800747
scholar	rs1800747
google	rs1800747
pharmgkb	rs1800747
gwascentral	rs1800747
openSNP	rs1800747
23andMe	rs1800747
SNPshot	rs1800747
SNPdbe	rs1800747
MSV3d	rs1800747
GWAS Ctlg	rs1800747

Max Magnitude

6

rs1800747, also known as IVS17-1G>A, c.5075-1G>A and then also IVS17-1G>C and c.5075-1G>C, is a variant in the BRCA1 gene. The common G allele can mutate to all three possibilities: G>A, G>C, and G>T. All are rare. Currently the G>A and G>C alleles are considered pathogenic in ClinVar for breast cancer.

In addition to rs1800747, this SNP is represented on 23andMe microarrays as i5009520 and i5009521, respectively, for the G>A and G>T alleles.

ClinVar
Risk	rs1800747(A;A) Rs1800747(C;C) rs1800747(T;T)
Alt	rs1800747(A;A) Rs1800747(C;C) rs1800747(T;T)
Reference	Rs1800747(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41215969C>A; NC_000017.10:g.41215969C>G; NC_000017.10:g.41215969C>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048771.2, RCV000112486.1, RCV000048770.2, RCV000112485.1, RCV000480623.1,