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rs387907200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907200(G;T)
Make rs387907200(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72887736
GeneSPR
is asnp
is mentioned by
dbSNPrs387907200
ebirs387907200
HLIrs387907200
Exacrs387907200
Varsomers387907200
Maprs387907200
PheGenIrs387907200
hapmaprs387907200
1000 genomesrs387907200
hgdprs387907200
ensemblrs387907200
gopubmedrs387907200
geneviewrs387907200
scholarrs387907200
googlers387907200
pharmgkbrs387907200
gwascentralrs387907200
openSNPrs387907200
23andMers387907200
23andMe allrs387907200
SNP Nexus

SNPshotrs387907200
SNPdbers387907200
MSV3drs387907200
GWAS Ctlgrs387907200
Max Magnitude0
ClinVar
Risk rs387907200(T;T)
Alt rs387907200(T;T)
Reference rs387907200(G;G)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73114865G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024605.25,