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rs80357785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357785(-;-)
Make rs80357785(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092179
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357785
ebirs80357785
HLIrs80357785
Exacrs80357785
Varsomers80357785
Maprs80357785
PheGenIrs80357785
hapmaprs80357785
1000 genomesrs80357785
hgdprs80357785
ensemblrs80357785
gopubmedrs80357785
geneviewrs80357785
scholarrs80357785
googlers80357785
pharmgkbrs80357785
gwascentralrs80357785
openSNPrs80357785
23andMers80357785
23andMe allrs80357785
SNP Nexus

SNPshotrs80357785
SNPdbers80357785
MSV3drs80357785
GWAS Ctlgrs80357785
Max Magnitude6
rs80357785, also known as 3470insT, c.3351_3352insT and p.Val1117_Gln1118?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357785(T;T)
Alt rs80357785(T;T)
Reference rs80357785(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244197dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112077.1,