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rs80357778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357778(-;-)
Make rs80357778(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094090
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357778
ebirs80357778
HLIrs80357778
Exacrs80357778
Varsomers80357778
Maprs80357778
PheGenIrs80357778
hapmaprs80357778
1000 genomesrs80357778
hgdprs80357778
ensemblrs80357778
gopubmedrs80357778
geneviewrs80357778
scholarrs80357778
googlers80357778
pharmgkbrs80357778
gwascentralrs80357778
openSNPrs80357778
23andMers80357778
23andMe allrs80357778
SNP Nexus

SNPshotrs80357778
SNPdbers80357778
MSV3drs80357778
GWAS Ctlgrs80357778
Max Magnitude6
rs80357778, also known as 1559insA, c.1440_1441insA and p.Asn480_Leu481?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357778(A;A)
Alt rs80357778(A;A)
Reference rs80357778(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246107_41246108insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111617.1,