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rs80357871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357871(-;-)
Make rs80357871(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093405
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357871
ebirs80357871
HLIrs80357871
Exacrs80357871
Varsomers80357871
Maprs80357871
PheGenIrs80357871
hapmaprs80357871
1000 genomesrs80357871
hgdprs80357871
ensemblrs80357871
gopubmedrs80357871
geneviewrs80357871
scholarrs80357871
googlers80357871
pharmgkbrs80357871
gwascentralrs80357871
openSNPrs80357871
23andMers80357871
23andMe allrs80357871
SNP Nexus

SNPshotrs80357871
SNPdbers80357871
MSV3drs80357871
GWAS Ctlgrs80357871
Max Magnitude6
rs80357871, also known as 2244insA, c.2125_2126insA and p.Phe709?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357871(A;A)
Alt rs80357871(A;A)
Reference rs80357871(;)
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.41245422_41245423insT
CLNSRC
CLNACC RCV000047722.2, RCV000083179.1,