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rs398122922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122922(A;G)
Make rs398122922(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position72891345
GeneSPR
is asnp
is mentioned by
dbSNPrs398122922
ebirs398122922
HLIrs398122922
Exacrs398122922
Varsomers398122922
Maprs398122922
PheGenIrs398122922
hapmaprs398122922
1000 genomesrs398122922
hgdprs398122922
ensemblrs398122922
gopubmedrs398122922
geneviewrs398122922
scholarrs398122922
googlers398122922
pharmgkbrs398122922
gwascentralrs398122922
openSNPrs398122922
23andMers398122922
23andMe allrs398122922
SNP Nexus

SNPshotrs398122922
SNPdbers398122922
MSV3drs398122922
GWAS Ctlgrs398122922
Max Magnitude0
ClinVar
Risk rs398122922(G;G)
Alt rs398122922(G;G)
Reference rs398122922(A;A)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73118474A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033096.24,