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rs398122816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122816(A;A)
Make rs398122816(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9262273
GeneH6PD
is asnp
is mentioned by
dbSNPrs398122816
ebirs398122816
HLIrs398122816
Exacrs398122816
Varsomers398122816
Maprs398122816
PheGenIrs398122816
hapmaprs398122816
1000 genomesrs398122816
hgdprs398122816
ensemblrs398122816
gopubmedrs398122816
geneviewrs398122816
scholarrs398122816
googlers398122816
pharmgkbrs398122816
gwascentralrs398122816
openSNPrs398122816
23andMers398122816
23andMe allrs398122816
SNP Nexus

SNPshotrs398122816
SNPdbers398122816
MSV3drs398122816
GWAS Ctlgrs398122816
Max Magnitude0
ClinVar
Risk rs398122816(A;A)
Alt rs398122816(A;A)
Reference rs398122816(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.9322332G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024290.28,