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rs80357818

From SNPedia

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


Make rs80357818(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051074
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357818
ebirs80357818
HLIrs80357818
Exacrs80357818
Varsomers80357818
Maprs80357818
PheGenIrs80357818
hapmaprs80357818
1000 genomesrs80357818
hgdprs80357818
ensemblrs80357818
gopubmedrs80357818
geneviewrs80357818
scholarrs80357818
googlers80357818
pharmgkbrs80357818
gwascentralrs80357818
openSNPrs80357818
23andMers80357818
23andMe allrs80357818
SNP Nexus

SNPshotrs80357818
SNPdbers80357818
MSV3drs80357818
GWAS Ctlgrs80357818
Max Magnitude6
rs80357818, also known as 5439delAA, c.5320_5321delAA and p.Asn1774Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357818(;)
Alt rs80357818(;)
Reference rs80357818(AA;AA)
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.41203091_41203092delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048928.2, RCV000112611.1,