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rs786205061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(T;T) 6.6 Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position102835249
GeneCYP17A1
is asnp
is mentioned by
dbSNPrs786205061
dbSNP (old)rs786205061
ClinGenrs786205061
ebirs786205061
HLIrs786205061
Exacrs786205061
Gnomadrs786205061
Varsomers786205061
Maprs786205061
PheGenIrs786205061
Biobankrs786205061
1000 genomesrs786205061
hgdprs786205061
ensemblrs786205061
gopubmedrs786205061
geneviewrs786205061
scholarrs786205061
googlers786205061
pharmgkbrs786205061
gwascentralrs786205061
openSNPrs786205061
23andMers786205061
23andMe allrs786205061
SNP Nexus

SNPshotrs786205061
SNPdbers786205061
MSV3drs786205061
GWAS Ctlgrs786205061
Max Magnitude6.6
ClinVar
Risk Rs786205061(T;T)
Alt Rs786205061(T;T)
Reference Rs786205061(G;G)
Significance Pathogenic
Disease Complete combined 17-alpha-hydroxylase/17
Variation info
Gene CYP17A1
CLNDBN Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
Reversed 1
HGVS NC_000010.10:g.104595006C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001863.3,