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rs80357839

From SNPedia

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


Make rs80357839(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43045760
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357839
dbSNP (classic)rs80357839
ClinGenrs80357839
ebirs80357839
HLIrs80357839
Exacrs80357839
Gnomadrs80357839
Varsomers80357839
LitVarrs80357839
Maprs80357839
PheGenIrs80357839
Biobankrs80357839
1000 genomesrs80357839
hgdprs80357839
ensemblrs80357839
geneviewrs80357839
scholarrs80357839
googlers80357839
pharmgkbrs80357839
gwascentralrs80357839
openSNPrs80357839
23andMers80357839
SNPshotrs80357839
SNPdbers80357839
MSV3drs80357839
GWAS Ctlgrs80357839
Merged fromRs397509292
Max Magnitude6

BRCA1, c.5512delG (p.Val1838Cysfs)

ClinVar
Risk rs80357839(-;-)
Alt rs80357839(-;-)
Reference Rs80357839(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.41197775delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049031.2, RCV000112690.2,