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rs80357744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357744(-;-)
Make rs80357744(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43049174
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357744
ebirs80357744
HLIrs80357744
Exacrs80357744
Varsomers80357744
Maprs80357744
PheGenIrs80357744
hapmaprs80357744
1000 genomesrs80357744
hgdprs80357744
ensemblrs80357744
gopubmedrs80357744
geneviewrs80357744
scholarrs80357744
googlers80357744
pharmgkbrs80357744
gwascentralrs80357744
openSNPrs80357744
23andMers80357744
23andMe allrs80357744
SNP Nexus

SNPshotrs80357744
SNPdbers80357744
MSV3drs80357744
GWAS Ctlgrs80357744
Max Magnitude6
rs80357744, also known as 5471insA, c.5352_5353insA and p.Val1784_Gln1785?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357744(A;A)
Alt rs80357744(A;A)
Reference rs80357744(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41201192dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112628.1,