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rs80357619

From SNPedia

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


Make rs80357619(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093882
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357619
ebirs80357619
HLIrs80357619
Exacrs80357619
Varsomers80357619
Maprs80357619
PheGenIrs80357619
hapmaprs80357619
1000 genomesrs80357619
hgdprs80357619
ensemblrs80357619
gopubmedrs80357619
geneviewrs80357619
scholarrs80357619
googlers80357619
pharmgkbrs80357619
gwascentralrs80357619
openSNPrs80357619
23andMers80357619
23andMe allrs80357619
SNP Nexus

SNPshotrs80357619
SNPdbers80357619
MSV3drs80357619
GWAS Ctlgrs80357619
Max Magnitude6
rs80357619, also known as 1768delA, c.1649_1649delA and p.Asn550Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357619(;)
Alt rs80357619(;)
Reference rs80357619(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.41245899delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047551.2, RCV000111661.1,