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rs80051519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80051519(C;T)
Make rs80051519(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position51212489
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs80051519
dbSNP (classic)rs80051519
ClinGenrs80051519
ebirs80051519
HLIrs80051519
Exacrs80051519
Gnomadrs80051519
Varsomers80051519
LitVarrs80051519
Maprs80051519
PheGenIrs80051519
Biobankrs80051519
1000 genomesrs80051519
hgdprs80051519
ensemblrs80051519
geneviewrs80051519
scholarrs80051519
googlers80051519
pharmgkbrs80051519
gwascentralrs80051519
openSNPrs80051519
23andMers80051519
SNPshotrs80051519
SNPdbers80051519
MSV3drs80051519
GWAS Ctlgrs80051519
Max Magnitude0
OMIM107910
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80051519(T;T)
Alt rs80051519(T;T)
Reference Rs80051519(C;C)
Significance Pathogenic
Disease Aromatase deficiency
Variation info
Gene CYP19A1
CLNDBN Aromatase deficiency
Reversed 0
HGVS NC_000015.9:g.51504686C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019399.27,