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rs556794126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs556794126(-;GGAT)
Make rs556794126(GGAT;GGAT)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position102830790
GeneCYP17A1, CYP17A1-AS1
is asnp
is mentioned by
dbSNPrs556794126
dbSNP (classic)rs556794126
ClinGenrs556794126
ebirs556794126
HLIrs556794126
Exacrs556794126
Gnomadrs556794126
Varsomers556794126
LitVarrs556794126
Maprs556794126
PheGenIrs556794126
Biobankrs556794126
1000 genomesrs556794126
hgdprs556794126
ensemblrs556794126
geneviewrs556794126
scholarrs556794126
googlers556794126
pharmgkbrs556794126
gwascentralrs556794126
openSNPrs556794126
23andMers556794126
SNPshotrs556794126
SNPdbers556794126
MSV3drs556794126
GWAS Ctlgrs556794126
Max Magnitude0
ClinVar
Risk rs556794126(GGAT;GGAT)
Alt rs556794126(GGAT;GGAT)
Reference Rs556794126(-;-)
Significance Pathogenic
Disease Complete combined 17-alpha-hydroxylase/17 Congenital adrenal hyperplasia
Variation info
Gene CYP17A1
CLNDBN Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Congenital adrenal hyperplasia
Reversed 0
HGVS NC_000010.10:g.104590548_104590551dupGGAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001849.3, RCV000337017.1,