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rs121917747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917747(A;T)
Make rs121917747(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72891502
GeneSPR
is asnp
is mentioned by
dbSNPrs121917747
ebirs121917747
HLIrs121917747
Exacrs121917747
Varsomers121917747
Maprs121917747
PheGenIrs121917747
hapmaprs121917747
1000 genomesrs121917747
hgdprs121917747
ensemblrs121917747
gopubmedrs121917747
geneviewrs121917747
scholarrs121917747
googlers121917747
pharmgkbrs121917747
gwascentralrs121917747
openSNPrs121917747
23andMers121917747
23andMe allrs121917747
SNP Nexus

SNPshotrs121917747
SNPdbers121917747
MSV3drs121917747
GWAS Ctlgrs121917747
Max Magnitude0
OMIM182125
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121917747(T;T)
Alt rs121917747(T;T)
Reference rs121917747(A;A)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73118631A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013807.25,