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rs398122818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122818(-;-)
Make rs398122818(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position9245259
GeneH6PD
is asnp
is mentioned by
dbSNPrs398122818
ebirs398122818
HLIrs398122818
Exacrs398122818
Varsomers398122818
Maprs398122818
PheGenIrs398122818
hapmaprs398122818
1000 genomesrs398122818
hgdprs398122818
ensemblrs398122818
gopubmedrs398122818
geneviewrs398122818
scholarrs398122818
googlers398122818
pharmgkbrs398122818
gwascentralrs398122818
openSNPrs398122818
23andMers398122818
23andMe allrs398122818
SNP Nexus

SNPshotrs398122818
SNPdbers398122818
MSV3drs398122818
GWAS Ctlgrs398122818
Max Magnitude0
ClinVar
Risk rs398122818(;)
Alt rs398122818(;)
Reference rs398122818(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.9305318delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024293.28,