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rs80357849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357849(-;-)
Make rs80357849(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091752
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357849
ebirs80357849
HLIrs80357849
Exacrs80357849
Varsomers80357849
Maprs80357849
PheGenIrs80357849
hapmaprs80357849
1000 genomesrs80357849
hgdprs80357849
ensemblrs80357849
gopubmedrs80357849
geneviewrs80357849
scholarrs80357849
googlers80357849
pharmgkbrs80357849
gwascentralrs80357849
openSNPrs80357849
23andMers80357849
23andMe allrs80357849
SNP Nexus

SNPshotrs80357849
SNPdbers80357849
MSV3drs80357849
GWAS Ctlgrs80357849
Max Magnitude6
rs80357849, also known as 3897insA, c.3778_3779insA and p.Leu1260?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357849(A;A)
Alt rs80357849(A;A)
Reference rs80357849(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243769_41243770insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112183.1,