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rs80357512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357512(-;-)
Make rs80357512(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091908
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357512
ebirs80357512
HLIrs80357512
Exacrs80357512
Varsomers80357512
Maprs80357512
PheGenIrs80357512
hapmaprs80357512
1000 genomesrs80357512
hgdprs80357512
ensemblrs80357512
gopubmedrs80357512
geneviewrs80357512
scholarrs80357512
googlers80357512
pharmgkbrs80357512
gwascentralrs80357512
openSNPrs80357512
23andMers80357512
23andMe allrs80357512
SNP Nexus

SNPshotrs80357512
SNPdbers80357512
MSV3drs80357512
GWAS Ctlgrs80357512
Max Magnitude6
rs80357512, also known as 3741insA, c.3622_3623insA and p.Lys1208?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357512(A;A)
Alt rs80357512(A;A)
Reference rs80357512(;)
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.41243924dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048259.2, RCV000112139.1,