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rs80357336

From SNPedia

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


Make rs80357336(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045711
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357336
dbSNP (classic)rs80357336
ClinGenrs80357336
ebirs80357336
HLIrs80357336
Exacrs80357336
Gnomadrs80357336
Varsomers80357336
LitVarrs80357336
Maprs80357336
PheGenIrs80357336
Biobankrs80357336
1000 genomesrs80357336
hgdprs80357336
ensemblrs80357336
geneviewrs80357336
scholarrs80357336
googlers80357336
pharmgkbrs80357336
gwascentralrs80357336
openSNPrs80357336
23andMers80357336
SNPshotrs80357336
SNPdbers80357336
MSV3drs80357336
GWAS Ctlgrs80357336
Max Magnitude6
ClinVar
Risk rs80357336(A;A) rs80357336(G;G)
Alt rs80357336(A;A) rs80357336(G;G)
Reference Rs80357336(C;C)
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.41197728G>C; NC_000017.10:g.41197728G>T
CLNSRC ClinVar
CLNACC RCV000049052.2, RCV000049051.2, RCV000112704.2,