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rs80357516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TAGT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357516(-;-)
Make rs80357516(TAGT;TAGT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093653
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357516
ebirs80357516
HLIrs80357516
Exacrs80357516
Varsomers80357516
Maprs80357516
PheGenIrs80357516
hapmaprs80357516
1000 genomesrs80357516
hgdprs80357516
ensemblrs80357516
gopubmedrs80357516
geneviewrs80357516
scholarrs80357516
googlers80357516
pharmgkbrs80357516
gwascentralrs80357516
openSNPrs80357516
23andMers80357516
23andMe allrs80357516
SNP Nexus

SNPshotrs80357516
SNPdbers80357516
MSV3drs80357516
GWAS Ctlgrs80357516
Max Magnitude6
rs80357516, also known as 1996ins4, c.1877_1878insTAGT and p.Val626?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357516(TAGT;TAGT)
Alt rs80357516(TAGT;TAGT)
Reference rs80357516(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245671_41245674dupACTA
CLNSRC
CLNACC RCV000047615.2,