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rs80357705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80357705(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43070978
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357705
ebirs80357705
HLIrs80357705
Exacrs80357705
Varsomers80357705
Maprs80357705
PheGenIrs80357705
hapmaprs80357705
1000 genomesrs80357705
hgdprs80357705
ensemblrs80357705
gopubmedrs80357705
geneviewrs80357705
scholarrs80357705
googlers80357705
pharmgkbrs80357705
gwascentralrs80357705
openSNPrs80357705
23andMers80357705
23andMe allrs80357705
SNP Nexus

SNPshotrs80357705
SNPdbers80357705
MSV3drs80357705
GWAS Ctlgrs80357705
Max Magnitude6
rs80357705, also known as 5055delG, c.4936_4936delG and p.Val1646Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357705(;)
Alt rs80357705(;)
Reference rs80357705(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41222995delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048699.2, RCV000112428.1, RCV000130668.2, RCV000236929.1,