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rs80357442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80357442(C;C)
Make rs80357442(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057077
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357442
dbSNP (classic)rs80357442
ClinGenrs80357442
ebirs80357442
HLIrs80357442
Exacrs80357442
Gnomadrs80357442
Varsomers80357442
LitVarrs80357442
Maprs80357442
PheGenIrs80357442
Biobankrs80357442
1000 genomesrs80357442
hgdprs80357442
ensemblrs80357442
geneviewrs80357442
scholarrs80357442
googlers80357442
pharmgkbrs80357442
gwascentralrs80357442
openSNPrs80357442
23andMers80357442
SNPshotrs80357442
SNPdbers80357442
MSV3drs80357442
GWAS Ctlgrs80357442
Max Magnitude0
ClinVar
Risk rs80357442(A;A) rs80357442(C;C)
Alt rs80357442(A;A) rs80357442(C;C)
Reference Rs80357442(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41209094C>G; NC_000017.10:g.41209094C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048884.2, RCV000112580.1, RCV000112579.2, RCV000148392.1, RCV000162992.1, RCV000168520.3, RCV000257892.3,