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rs104893666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893666(C;T)
Make rs104893666(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72888497
GeneSPR
is asnp
is mentioned by
dbSNPrs104893666
ebirs104893666
HLIrs104893666
Exacrs104893666
Varsomers104893666
Maprs104893666
PheGenIrs104893666
hapmaprs104893666
1000 genomesrs104893666
hgdprs104893666
ensemblrs104893666
gopubmedrs104893666
geneviewrs104893666
scholarrs104893666
googlers104893666
pharmgkbrs104893666
gwascentralrs104893666
openSNPrs104893666
23andMers104893666
23andMe allrs104893666
SNP Nexus

SNPshotrs104893666
SNPdbers104893666
MSV3drs104893666
GWAS Ctlgrs104893666
Max Magnitude0
OMIM182125
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893666(T;T)
Alt rs104893666(T;T)
Reference rs104893666(C;C)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73115626C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013806.24,