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rs28931607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28931607(A;A)
Make rs28931607(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position75985959
GenePOR
is asnp
is mentioned by
dbSNPrs28931607
ebirs28931607
HLIrs28931607
Exacrs28931607
Varsomers28931607
Maprs28931607
PheGenIrs28931607
hapmaprs28931607
1000 genomesrs28931607
hgdprs28931607
ensemblrs28931607
gopubmedrs28931607
geneviewrs28931607
scholarrs28931607
googlers28931607
pharmgkbrs28931607
gwascentralrs28931607
openSNPrs28931607
23andMers28931607
23andMe allrs28931607
SNP Nexus

SNPshotrs28931607
SNPdbers28931607
MSV3drs28931607
GWAS Ctlgrs28931607
Max Magnitude0
OMIM124015
DescDISORDERED STEROIDOGENESIS, ISOLATED
Variant0003
Relatedalso
Neighborrs28931606
Distance304
OMIM124015
Desc
Variant0008
Relatedalso


ClinVar
Risk rs28931607(A;A)
Alt rs28931607(A;A)
Reference rs28931607(G;G)
Significance Pathogenic
Disease Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Variation info
Gene POR
CLNDBN Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Reversed 0
HGVS NC_000007.13:g.75615277G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018402.24,