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rs80357790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357790(-;-)
Make rs80357790(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082460
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357790
ebirs80357790
HLIrs80357790
Exacrs80357790
Varsomers80357790
Maprs80357790
PheGenIrs80357790
hapmaprs80357790
1000 genomesrs80357790
hgdprs80357790
ensemblrs80357790
gopubmedrs80357790
geneviewrs80357790
scholarrs80357790
googlers80357790
pharmgkbrs80357790
gwascentralrs80357790
openSNPrs80357790
23andMers80357790
23andMe allrs80357790
SNP Nexus

SNPshotrs80357790
SNPdbers80357790
MSV3drs80357790
GWAS Ctlgrs80357790
Max Magnitude6
rs80357790, also known as 4419insA, c.4300_4301insA and p.Ser1434?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357790(A;A)
Alt rs80357790(A;A)
Reference rs80357790(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234478dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048517.2, RCV000112312.1,