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rs398122817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122817(C;G)
Make rs398122817(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9262261
GeneH6PD
is asnp
is mentioned by
dbSNPrs398122817
ebirs398122817
HLIrs398122817
Exacrs398122817
Varsomers398122817
Maprs398122817
PheGenIrs398122817
hapmaprs398122817
1000 genomesrs398122817
hgdprs398122817
ensemblrs398122817
gopubmedrs398122817
geneviewrs398122817
scholarrs398122817
googlers398122817
pharmgkbrs398122817
gwascentralrs398122817
openSNPrs398122817
23andMers398122817
23andMe allrs398122817
SNP Nexus

SNPshotrs398122817
SNPdbers398122817
MSV3drs398122817
GWAS Ctlgrs398122817
Max Magnitude0
ClinVar
Risk rs398122817(G;G)
Alt rs398122817(G;G)
Reference rs398122817(C;C)
Significance Pathogenic
Disease Cortisone reductase deficiency 1
Variation info
Gene H6PD
CLNDBN Cortisone reductase deficiency 1
Reversed 0
HGVS NC_000001.10:g.9322320C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024292.28,