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rs72552771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72552771(G;G)
Make rs72552771(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position75981072
GenePOR
is asnp
is mentioned by
dbSNPrs72552771
ebirs72552771
HLIrs72552771
Exacrs72552771
Varsomers72552771
Maprs72552771
PheGenIrs72552771
hapmaprs72552771
1000 genomesrs72552771
hgdprs72552771
ensemblrs72552771
gopubmedrs72552771
geneviewrs72552771
scholarrs72552771
googlers72552771
pharmgkbrs72552771
gwascentralrs72552771
openSNPrs72552771
23andMers72552771
23andMe allrs72552771
SNP Nexus

SNPshotrs72552771
SNPdbers72552771
MSV3drs72552771
GWAS Ctlgrs72552771
Max Magnitude0
OMIM124015
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72552771(G;G)
Alt rs72552771(G;G)
Reference rs72552771(T;T)
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.75610390T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018405.24,