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rs28931608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28931608(A;A)
Make rs28931608(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position75985179
GenePOR
is asnp
is mentioned by
dbSNPrs28931608
ebirs28931608
HLIrs28931608
Exacrs28931608
Varsomers28931608
Maprs28931608
PheGenIrs28931608
hapmaprs28931608
1000 genomesrs28931608
hgdprs28931608
ensemblrs28931608
gopubmedrs28931608
geneviewrs28931608
scholarrs28931608
googlers28931608
pharmgkbrs28931608
gwascentralrs28931608
openSNPrs28931608
23andMers28931608
23andMe allrs28931608
SNP Nexus

SNPshotrs28931608
SNPdbers28931608
MSV3drs28931608
GWAS Ctlgrs28931608
GMAF0.0004591
Max Magnitude0
OMIM124015
DescPOR DEFICIENCY
Variant0005
Relatedalso
Neighborrs28931606
Distance476


ClinVar
Risk rs28931608(A;A)
Alt rs28931608(A;A)
Reference rs28931608(G;G)
Significance Pathogenic
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Variation info
Gene POR
CLNDBN Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Reversed 0
HGVS NC_000007.13:g.75614497G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018406.29, RCV000018407.29,