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rs80357760

From SNPedia

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


Make rs80357760(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063941
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357760
ebirs80357760
HLIrs80357760
Exacrs80357760
Varsomers80357760
Maprs80357760
PheGenIrs80357760
hapmaprs80357760
1000 genomesrs80357760
hgdprs80357760
ensemblrs80357760
gopubmedrs80357760
geneviewrs80357760
scholarrs80357760
googlers80357760
pharmgkbrs80357760
gwascentralrs80357760
openSNPrs80357760
23andMers80357760
23andMe allrs80357760
SNP Nexus

SNPshotrs80357760
SNPdbers80357760
MSV3drs80357760
GWAS Ctlgrs80357760
Max Magnitude6
rs80357760, also known as 5203delTT, c.5084_5085delTT and p.Phe1695Cysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357760(;)
Alt rs80357760(;)
Reference rs80357760(TT;TT)
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.41215958_41215959delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048781.2, RCV000112492.1,