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rs121912975

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912975(A;G)
Make rs121912975(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position75985986
GenePOR
is asnp
is mentioned by
dbSNPrs121912975
ebirs121912975
HLIrs121912975
Exacrs121912975
Varsomers121912975
Maprs121912975
PheGenIrs121912975
hapmaprs121912975
1000 genomesrs121912975
hgdprs121912975
ensemblrs121912975
gopubmedrs121912975
geneviewrs121912975
scholarrs121912975
googlers121912975
pharmgkbrs121912975
gwascentralrs121912975
openSNPrs121912975
23andMers121912975
23andMe allrs121912975
SNP Nexus

SNPshotrs121912975
SNPdbers121912975
MSV3drs121912975
GWAS Ctlgrs121912975
Max Magnitude0
OMIM124015
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912975(G;G)
Alt rs121912975(G;G)
Reference rs121912975(A;A)
Significance Pathogenic
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Variation info
Gene POR
CLNDBN Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Reversed 0
HGVS NC_000007.13:g.75615304A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018411.29,