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rs1800747

From SNPedia

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


Make rs1800747(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063952
GeneBRCA1
is asnp
is mentioned by
dbSNPrs1800747
ebirs1800747
HLIrs1800747
Exacrs1800747
Varsomers1800747
Maprs1800747
PheGenIrs1800747
hapmaprs1800747
1000 genomesrs1800747
hgdprs1800747
ensemblrs1800747
gopubmedrs1800747
geneviewrs1800747
scholarrs1800747
googlers1800747
pharmgkbrs1800747
gwascentralrs1800747
openSNPrs1800747
23andMers1800747
23andMe allrs1800747
SNP Nexus

SNPshotrs1800747
SNPdbers1800747
MSV3drs1800747
GWAS Ctlgrs1800747
Max Magnitude6

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,C,T;A,C,T)
Alt rs1800747(A,C,T;A,C,T)
Reference rs1800747(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
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,