Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912976(A;A)
Make rs121912976(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position75985795
GenePOR
is asnp
is mentioned by
dbSNPrs121912976
ebirs121912976
HLIrs121912976
Exacrs121912976
Varsomers121912976
Maprs121912976
PheGenIrs121912976
hapmaprs121912976
1000 genomesrs121912976
hgdprs121912976
ensemblrs121912976
gopubmedrs121912976
geneviewrs121912976
scholarrs121912976
googlers121912976
pharmgkbrs121912976
gwascentralrs121912976
openSNPrs121912976
23andMers121912976
23andMe allrs121912976
SNP Nexus

SNPshotrs121912976
SNPdbers121912976
MSV3drs121912976
GWAS Ctlgrs121912976
Max Magnitude0
OMIM124015
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912976(A,C;A,C)
Alt rs121912976(A,C;A,C)
Reference rs121912976(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.75615113G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018415.29, RCV000018416.29,