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rs80357704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357704(-;-)
Make rs80357704(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091764
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357704
ebirs80357704
HLIrs80357704
Exacrs80357704
Varsomers80357704
Maprs80357704
PheGenIrs80357704
hapmaprs80357704
1000 genomesrs80357704
hgdprs80357704
ensemblrs80357704
gopubmedrs80357704
geneviewrs80357704
scholarrs80357704
googlers80357704
pharmgkbrs80357704
gwascentralrs80357704
openSNPrs80357704
23andMers80357704
23andMe allrs80357704
SNP Nexus

SNPshotrs80357704
SNPdbers80357704
MSV3drs80357704
GWAS Ctlgrs80357704
Max Magnitude6
rs80357704, also known as 3885insA, c.3766_3767insA and p.Thr1256?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357704(A;A)
Alt rs80357704(A;A)
Reference rs80357704(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243782dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112177.1,