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rs80357810

From SNPedia

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


Make rs80357810(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091759
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357810
ebirs80357810
HLIrs80357810
Exacrs80357810
Varsomers80357810
Maprs80357810
PheGenIrs80357810
hapmaprs80357810
1000 genomesrs80357810
hgdprs80357810
ensemblrs80357810
gopubmedrs80357810
geneviewrs80357810
scholarrs80357810
googlers80357810
pharmgkbrs80357810
gwascentralrs80357810
openSNPrs80357810
23andMers80357810
23andMe allrs80357810
SNP Nexus

SNPshotrs80357810
SNPdbers80357810
MSV3drs80357810
GWAS Ctlgrs80357810
Max Magnitude6
rs80357810, also known as 3890delGG, c.3771_3772delGG and p.Glu1257_Glu1258=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357810(;)
Alt rs80357810(;)
Reference rs80357810(GG;GG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243776_41243777delCC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112180.1,