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rs80357907

From SNPedia

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


Make rs80357907(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071169
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357907
ebirs80357907
HLIrs80357907
Exacrs80357907
Varsomers80357907
Maprs80357907
PheGenIrs80357907
hapmaprs80357907
1000 genomesrs80357907
hgdprs80357907
ensemblrs80357907
gopubmedrs80357907
geneviewrs80357907
scholarrs80357907
googlers80357907
pharmgkbrs80357907
gwascentralrs80357907
openSNPrs80357907
23andMers80357907
23andMe allrs80357907
SNP Nexus

SNPshotrs80357907
SNPdbers80357907
MSV3drs80357907
GWAS Ctlgrs80357907
Max Magnitude6
rs80357907, also known as 4864delA, c.4745_4745delA and p.Asp1582Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357907(;)
Alt rs80357907(;)
Reference rs80357907(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.41223186delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048649.2, RCV000112393.1,