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rs121912974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912974(C;C)
Make rs121912974(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position75983548
GenePOR
is asnp
is mentioned by
dbSNPrs121912974
ebirs121912974
HLIrs121912974
Exacrs121912974
Varsomers121912974
Maprs121912974
PheGenIrs121912974
hapmaprs121912974
1000 genomesrs121912974
hgdprs121912974
ensemblrs121912974
gopubmedrs121912974
geneviewrs121912974
scholarrs121912974
googlers121912974
pharmgkbrs121912974
gwascentralrs121912974
openSNPrs121912974
23andMers121912974
23andMe allrs121912974
SNP Nexus

SNPshotrs121912974
SNPdbers121912974
MSV3drs121912974
GWAS Ctlgrs121912974
Merged fromRs28929491
Max Magnitude0
OMIM124015
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912974(C;C)
Alt rs121912974(C;C)
Reference rs121912974(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.75612866G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018401.29, RCV000170457.3,