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rs80357736

From SNPedia

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


Make rs80357736(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093706
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357736
ebirs80357736
HLIrs80357736
Exacrs80357736
Varsomers80357736
Maprs80357736
PheGenIrs80357736
hapmaprs80357736
1000 genomesrs80357736
hgdprs80357736
ensemblrs80357736
gopubmedrs80357736
geneviewrs80357736
scholarrs80357736
googlers80357736
pharmgkbrs80357736
gwascentralrs80357736
openSNPrs80357736
23andMers80357736
23andMe allrs80357736
SNP Nexus

SNPshotrs80357736
SNPdbers80357736
MSV3drs80357736
GWAS Ctlgrs80357736
Max Magnitude6
rs80357736, also known as 1944delAAinsT, c.1825_1825delA and p.Asn609Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357736(;)
Alt rs80357736(;)
Reference rs80357736(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.41245723delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047600.2, RCV000111694.1,