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rs121917746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917746(C;T)
Make rs121917746(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72888364
GeneSPR
is asnp
is mentioned by
dbSNPrs121917746
ebirs121917746
HLIrs121917746
Exacrs121917746
Varsomers121917746
Maprs121917746
PheGenIrs121917746
hapmaprs121917746
1000 genomesrs121917746
hgdprs121917746
ensemblrs121917746
gopubmedrs121917746
geneviewrs121917746
scholarrs121917746
googlers121917746
pharmgkbrs121917746
gwascentralrs121917746
openSNPrs121917746
23andMers121917746
23andMe allrs121917746
SNP Nexus

SNPshotrs121917746
SNPdbers121917746
MSV3drs121917746
GWAS Ctlgrs121917746
Max Magnitude0
OMIM182125
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917746(T;T)
Alt rs121917746(T;T)
Reference rs121917746(C;C)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73115493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013802.24,