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rs61754278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61754278(A;A)
Make rs61754278(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position102832610
GeneCYP17A1, CYP17A1-AS1
is asnp
is mentioned by
dbSNPrs61754278
dbSNP (classic)rs61754278
ClinGenrs61754278
ebirs61754278
HLIrs61754278
Exacrs61754278
Gnomadrs61754278
Varsomers61754278
LitVarrs61754278
Maprs61754278
PheGenIrs61754278
Biobankrs61754278
1000 genomesrs61754278
hgdprs61754278
ensemblrs61754278
geneviewrs61754278
scholarrs61754278
googlers61754278
pharmgkbrs61754278
gwascentralrs61754278
openSNPrs61754278
23andMers61754278
SNPshotrs61754278
SNPdbers61754278
MSV3drs61754278
GWAS Ctlgrs61754278
Max Magnitude0
OMIM609300
Desc
Variant0012
Relatedalso


ClinVar
Risk rs61754278(A;A)
Alt rs61754278(A;A)
Reference Rs61754278(G;G)
Significance Pathogenic
Disease Isolated 17 Deficiency of steroid 17-alpha-monooxygenase
Variation info
Gene CYP17A1
CLNDBN Isolated 17,20-lyase deficiency Deficiency of steroid 17-alpha-monooxygenase
Reversed 1
HGVS NC_000010.10:g.104592367C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001860.4, RCV000185577.2,