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rs80357900

From SNPedia

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


Make rs80357900(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092141
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357900
ebirs80357900
HLIrs80357900
Exacrs80357900
Varsomers80357900
Maprs80357900
PheGenIrs80357900
hapmaprs80357900
1000 genomesrs80357900
hgdprs80357900
ensemblrs80357900
gopubmedrs80357900
geneviewrs80357900
scholarrs80357900
googlers80357900
pharmgkbrs80357900
gwascentralrs80357900
openSNPrs80357900
23andMers80357900
23andMe allrs80357900
SNP Nexus

SNPshotrs80357900
SNPdbers80357900
MSV3drs80357900
GWAS Ctlgrs80357900
Max Magnitude6
rs80357900, also known as 3509delA, c.3390_3390delA and p.Ser1130=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357900(;)
Alt rs80357900(;)
Reference rs80357900(A;A)
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.41244158delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048174.2, RCV000077546.3,