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rs80357700

From SNPedia

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


Make rs80357700(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094800
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357700
ebirs80357700
HLIrs80357700
Exacrs80357700
Varsomers80357700
Maprs80357700
PheGenIrs80357700
hapmaprs80357700
1000 genomesrs80357700
hgdprs80357700
ensemblrs80357700
gopubmedrs80357700
geneviewrs80357700
scholarrs80357700
googlers80357700
pharmgkbrs80357700
gwascentralrs80357700
openSNPrs80357700
23andMers80357700
23andMe allrs80357700
SNP Nexus

SNPshotrs80357700
SNPdbers80357700
MSV3drs80357700
GWAS Ctlgrs80357700
Max Magnitude6
rs80357700, also known as 850delA, c.731_731delA and p.Asn244Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357700(;)
Alt rs80357700(;)
Reference rs80357700(A;A)
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.41246817delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049111.2, RCV000112777.1,