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rs104894137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6.3 Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
(A;C) 3 Carrier of a partial 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome10
Position102832626
GeneCYP17A1, CYP17A1-AS1
is asnp
is mentioned by
dbSNPrs104894137
ClinGenrs104894137
ebirs104894137
HLIrs104894137
Exacrs104894137
Varsomers104894137
Maprs104894137
PheGenIrs104894137
hapmaprs104894137
1000 genomesrs104894137
hgdprs104894137
ensemblrs104894137
gopubmedrs104894137
geneviewrs104894137
scholarrs104894137
googlers104894137
pharmgkbrs104894137
gwascentralrs104894137
openSNPrs104894137
23andMers104894137
23andMe allrs104894137
SNP Nexus

SNPshotrs104894137
SNPdbers104894137
MSV3drs104894137
GWAS Ctlgrs104894137
Max Magnitude6.3

c.1024C>A (p.Pro342Thr)

23andMe name: i5001493

OMIM609300
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs104894137(A;A)
Alt Rs104894137(A;A)
Reference Rs104894137(C;C)
Significance Pathogenic
Disease Combined partial 17-alpha-hydroxylase/17
Variation info
Gene CYP17A1
CLNDBN Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
Reversed 1
HGVS NC_000010.10:g.104592383G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001856.4,