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rs80357763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAAT) 6 BRCA1 variant considered pathogenic for breast cancer
(TAAA;TAAA) 0 common in clinvar
Make rs80357763(-;-)
Make rs80357763(AAAT;AAAT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092208
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357763
ebirs80357763
HLIrs80357763
Exacrs80357763
Varsomers80357763
Maprs80357763
PheGenIrs80357763
hapmaprs80357763
1000 genomesrs80357763
hgdprs80357763
ensemblrs80357763
gopubmedrs80357763
geneviewrs80357763
scholarrs80357763
googlers80357763
pharmgkbrs80357763
gwascentralrs80357763
openSNPrs80357763
23andMers80357763
23andMe allrs80357763
SNP Nexus

SNPshotrs80357763
SNPdbers80357763
MSV3drs80357763
GWAS Ctlgrs80357763
Max Magnitude6
rs80357763, also known as 3439del4, c.3320_3323delAAAT and p.Glu1107_Ile1108?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357763(;)
Alt rs80357763(;)
Reference rs80357763(TAAA;TAAA)
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.41244222_41244225delTTTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048142.2, RCV000112059.1,