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rs80357761

From SNPedia

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


Make rs80357761(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070972
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357761
ebirs80357761
HLIrs80357761
Exacrs80357761
Varsomers80357761
Maprs80357761
PheGenIrs80357761
hapmaprs80357761
1000 genomesrs80357761
hgdprs80357761
ensemblrs80357761
gopubmedrs80357761
geneviewrs80357761
scholarrs80357761
googlers80357761
pharmgkbrs80357761
gwascentralrs80357761
openSNPrs80357761
23andMers80357761
23andMe allrs80357761
SNP Nexus

SNPshotrs80357761
SNPdbers80357761
MSV3drs80357761
GWAS Ctlgrs80357761
Max Magnitude6
rs80357761, also known as 5061delA, c.4942_4942delA and p.Lys1648=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357761(;)
Alt rs80357761(;)
Reference rs80357761(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41222986delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048705.2, RCV000112431.1, RCV000239002.1,