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rs72552772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552772(G;T)
Make rs72552772(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position75986165
GenePOR
is asnp
is mentioned by
dbSNPrs72552772
ebirs72552772
HLIrs72552772
Exacrs72552772
Varsomers72552772
Maprs72552772
PheGenIrs72552772
hapmaprs72552772
1000 genomesrs72552772
hgdprs72552772
ensemblrs72552772
gopubmedrs72552772
geneviewrs72552772
scholarrs72552772
googlers72552772
pharmgkbrs72552772
gwascentralrs72552772
openSNPrs72552772
23andMers72552772
23andMe allrs72552772
SNP Nexus

SNPshotrs72552772
SNPdbers72552772
MSV3drs72552772
GWAS Ctlgrs72552772
Max Magnitude0
OMIM124015
Desc
Variant0004
Relatedalso


ClinVar
Risk rs72552772(A,T;A,T)
Alt rs72552772(A,T;A,T)
Reference rs72552772(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.75615483G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018403.24,