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rs387907167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907167(A;A)
Make rs387907167(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9263569
GeneH6PD
is asnp
is mentioned by
dbSNPrs387907167
ebirs387907167
HLIrs387907167
Exacrs387907167
Varsomers387907167
Maprs387907167
PheGenIrs387907167
hapmaprs387907167
1000 genomesrs387907167
hgdprs387907167
ensemblrs387907167
gopubmedrs387907167
geneviewrs387907167
scholarrs387907167
googlers387907167
pharmgkbrs387907167
gwascentralrs387907167
openSNPrs387907167
23andMers387907167
23andMe allrs387907167
SNP Nexus

SNPshotrs387907167
SNPdbers387907167
MSV3drs387907167
GWAS Ctlgrs387907167
Max Magnitude0
ClinVar
Risk rs387907167(A;A)
Alt rs387907167(A;A)
Reference rs387907167(G;G)
Significance Pathogenic
Disease Cortisone reductase deficiency 1
Variation info
Gene H6PD
CLNDBN Cortisone reductase deficiency 1
Reversed 0
HGVS NC_000001.10:g.9323628G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024291.28,