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rs80357595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357595(-;-)
Make rs80357595(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093453
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357595
ebirs80357595
HLIrs80357595
Exacrs80357595
Varsomers80357595
Maprs80357595
PheGenIrs80357595
hapmaprs80357595
1000 genomesrs80357595
hgdprs80357595
ensemblrs80357595
gopubmedrs80357595
geneviewrs80357595
scholarrs80357595
googlers80357595
pharmgkbrs80357595
gwascentralrs80357595
openSNPrs80357595
23andMers80357595
23andMe allrs80357595
SNP Nexus

SNPshotrs80357595
SNPdbers80357595
MSV3drs80357595
GWAS Ctlgrs80357595
Max Magnitude6
rs80357595, also known as 2196insTA, c.2077_2078insTA and p.Asp693?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357595(TA;TA)
Alt rs80357595(TA;TA)
Reference rs80357595(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245470_41245471insTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111760.2,