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rs80358065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358065(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43106535
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358065
dbSNP (classic)rs80358065
ClinGenrs80358065
ebirs80358065
HLIrs80358065
Exacrs80358065
Gnomadrs80358065
Varsomers80358065
LitVarrs80358065
Maprs80358065
PheGenIrs80358065
Biobankrs80358065
1000 genomesrs80358065
hgdprs80358065
ensemblrs80358065
geneviewrs80358065
scholarrs80358065
googlers80358065
pharmgkbrs80358065
gwascentralrs80358065
openSNPrs80358065
23andMers80358065
SNPshotrs80358065
SNPdbers80358065
MSV3drs80358065
GWAS Ctlgrs80358065
Max Magnitude6
ClinVar
Risk rs80358065(G;G)
Alt rs80358065(G;G)
Reference Rs80358065(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41258552T>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111860.1, RCV000238811.1,