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rs80357575

From SNPedia

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


Make rs80357575(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092202
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357575
ebirs80357575
HLIrs80357575
Exacrs80357575
Varsomers80357575
Maprs80357575
PheGenIrs80357575
hapmaprs80357575
1000 genomesrs80357575
hgdprs80357575
ensemblrs80357575
gopubmedrs80357575
geneviewrs80357575
scholarrs80357575
googlers80357575
pharmgkbrs80357575
gwascentralrs80357575
openSNPrs80357575
23andMers80357575
23andMe allrs80357575
SNP Nexus

SNPshotrs80357575
SNPdbers80357575
MSV3drs80357575
GWAS Ctlgrs80357575
Max Magnitude6
rs80357575, also known as 3445del4, c.3326_3329delAAAA and p.Lys1109_Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357575(;)
Alt rs80357575(;)
Reference rs80357575(AAAA;AAAA)
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.41244219_41244222delTTTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048144.2, RCV000112062.1,