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rs80357746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357746(-;-)
Make rs80357746(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092486
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357746
ebirs80357746
HLIrs80357746
Exacrs80357746
Varsomers80357746
Maprs80357746
PheGenIrs80357746
hapmaprs80357746
1000 genomesrs80357746
hgdprs80357746
ensemblrs80357746
gopubmedrs80357746
geneviewrs80357746
scholarrs80357746
googlers80357746
pharmgkbrs80357746
gwascentralrs80357746
openSNPrs80357746
23andMers80357746
23andMe allrs80357746
SNP Nexus

SNPshotrs80357746
SNPdbers80357746
MSV3drs80357746
GWAS Ctlgrs80357746
Max Magnitude6
rs80357746, also known as 3163insG, c.3044_3045insG and p.Gly1015?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357746(G;G)
Alt rs80357746(G;G)
Reference rs80357746(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244504dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111990.1, RCV000131956.2,