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rs80358042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer


Make rs80358042(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106455
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358042
dbSNP (classic)rs80358042
ClinGenrs80358042
ebirs80358042
HLIrs80358042
Exacrs80358042
Gnomadrs80358042
Varsomers80358042
LitVarrs80358042
Maprs80358042
PheGenIrs80358042
Biobankrs80358042
1000 genomesrs80358042
hgdprs80358042
ensemblrs80358042
geneviewrs80358042
scholarrs80358042
googlers80358042
pharmgkbrs80358042
gwascentralrs80358042
openSNPrs80358042
23andMers80358042
SNPshotrs80358042
SNPdbers80358042
MSV3drs80358042
GWAS Ctlgrs80358042
Max Magnitude6
ClinVar
Risk rs80358042(A;A) rs80358042(C;C) rs80358042(T;T)
Alt rs80358042(A;A) rs80358042(C;C) rs80358042(T;T)
Reference Rs80358042(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41258472C>A; NC_000017.10:g.41258472C>G; NC_000017.10:g.41258472C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047717.3, RCV000112019.1, RCV000218717.1, RCV000478644.1, RCV000047716.2, RCV000112018.1, RCV000031027.4, RCV000047715.2,