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rs28931606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28931606(A;A)
Make rs28931606(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position75985655
GenePOR
is asnp
is mentioned by
dbSNPrs28931606
ebirs28931606
HLIrs28931606
Exacrs28931606
Varsomers28931606
Maprs28931606
PheGenIrs28931606
hapmaprs28931606
1000 genomesrs28931606
hgdprs28931606
ensemblrs28931606
gopubmedrs28931606
geneviewrs28931606
scholarrs28931606
googlers28931606
pharmgkbrs28931606
gwascentralrs28931606
openSNPrs28931606
23andMers28931606
23andMe allrs28931606
SNP Nexus

SNPshotrs28931606
SNPdbers28931606
MSV3drs28931606
GWAS Ctlgrs28931606
Max Magnitude0
OMIM124015
DescPOR DEFICIENCY
Variant0001
Relatedalso
Neighborrs28931608
Distance476
Neighborrs28931607
Distance304


ClinVar
Risk rs28931606(A;A)
Alt rs28931606(A;A)
Reference rs28931606(T;T)
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.75614973T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018400.28,