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rs587776777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACAG;AACAG) 0 common in clinvar
Make rs587776777(-;-)
Make rs587776777(-;AGAAC)
Make rs587776777(AGAAC;AGAAC)
ReferenceGRCh38 38.1/142
Chromosome2
Position72888457
GeneSPR
is asnp
is mentioned by
dbSNPrs587776777
ebirs587776777
HLIrs587776777
Exacrs587776777
Varsomers587776777
Maprs587776777
PheGenIrs587776777
hapmaprs587776777
1000 genomesrs587776777
hgdprs587776777
ensemblrs587776777
gopubmedrs587776777
geneviewrs587776777
scholarrs587776777
googlers587776777
pharmgkbrs587776777
gwascentralrs587776777
openSNPrs587776777
23andMers587776777
23andMe allrs587776777
SNP Nexus

SNPshotrs587776777
SNPdbers587776777
MSV3drs587776777
GWAS Ctlgrs587776777
Max Magnitude0
ClinVar
Risk rs587776777(;)
Alt rs587776777(;)
Reference rs587776777(AACAG;AACAG)
Significance Pathogenic
Disease Sepiapterin reductase deficiency
Variation info
Gene SPR
CLNDBN Sepiapterin reductase deficiency
Reversed 0
HGVS NC_000002.11:g.73115586_73115590delAGAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013803.25,