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rs80357702

From SNPedia

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


Make rs80357702(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092350
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357702
ebirs80357702
HLIrs80357702
Exacrs80357702
Varsomers80357702
Maprs80357702
PheGenIrs80357702
hapmaprs80357702
1000 genomesrs80357702
hgdprs80357702
ensemblrs80357702
gopubmedrs80357702
geneviewrs80357702
scholarrs80357702
googlers80357702
pharmgkbrs80357702
gwascentralrs80357702
openSNPrs80357702
23andMers80357702
23andMe allrs80357702
SNP Nexus

SNPshotrs80357702
SNPdbers80357702
MSV3drs80357702
GWAS Ctlgrs80357702
Max Magnitude6
rs80357702, also known as 3300delA, c.3181_3181delA and p.Ile1061Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357702(;)
Alt rs80357702(;)
Reference rs80357702(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.41244367delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048095.2, RCV000112013.1,