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rs121434319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6.3 Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
(-;TTC) 3 Carrier of a partial 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(TTC;TTC) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome10
Position102837203
GeneCYP17A1
is asnp
is mentioned by
dbSNPrs121434319
ClinGenrs121434319
ebirs121434319
HLIrs121434319
Exacrs121434319
Varsomers121434319
Maprs121434319
PheGenIrs121434319
hapmaprs121434319
1000 genomesrs121434319
hgdprs121434319
ensemblrs121434319
gopubmedrs121434319
geneviewrs121434319
scholarrs121434319
googlers121434319
pharmgkbrs121434319
gwascentralrs121434319
openSNPrs121434319
23andMers121434319
23andMe allrs121434319
SNP Nexus

SNPshotrs121434319
SNPdbers121434319
MSV3drs121434319
GWAS Ctlgrs121434319
Max Magnitude6.3
OMIM609300
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs121434319(-;-)
Alt Rs121434319(-;-)
Reference Rs121434319(TTC;TTC)
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.104596960_104596962delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001850.2,