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rs104894145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;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 38.1/141
Chromosome10
Position102830946
GeneCYP17A1, CYP17A1-AS1
is asnp
is mentioned by
dbSNPrs104894145
dbSNP (classic)rs104894145
ClinGenrs104894145
ebirs104894145
HLIrs104894145
Exacrs104894145
Gnomadrs104894145
Varsomers104894145
LitVarrs104894145
Maprs104894145
PheGenIrs104894145
Biobankrs104894145
1000 genomesrs104894145
hgdprs104894145
ensemblrs104894145
geneviewrs104894145
scholarrs104894145
googlers104894145
pharmgkbrs104894145
gwascentralrs104894145
openSNPrs104894145
23andMers104894145
SNPshotrs104894145
SNPdbers104894145
MSV3drs104894145
GWAS Ctlgrs104894145
Max Magnitude6.6

c.1283C>T (p.Pro428Leu)

23andMe name: i5001481

OMIM609300
Desc
Variant0026
Relatedalso
ClinVar
Risk Rs104894145(T;T)
Alt Rs104894145(T;T)
Reference Rs104894145(C;C)
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.104590703G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001872.3,