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rs80357573

From SNPedia

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


Make rs80357573(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092616
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357573
ebirs80357573
HLIrs80357573
Exacrs80357573
Varsomers80357573
Maprs80357573
PheGenIrs80357573
hapmaprs80357573
1000 genomesrs80357573
hgdprs80357573
ensemblrs80357573
gopubmedrs80357573
geneviewrs80357573
scholarrs80357573
googlers80357573
pharmgkbrs80357573
gwascentralrs80357573
openSNPrs80357573
23andMers80357573
23andMe allrs80357573
SNP Nexus

SNPshotrs80357573
SNPdbers80357573
MSV3drs80357573
GWAS Ctlgrs80357573
Max Magnitude6
rs80357573, also known as 3034delG, c.2915_2915delG and p.Gly972Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357573(;)
Alt rs80357573(;)
Reference rs80357573(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.41244633delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048007.2, RCV000111963.1,