Have questions? Visit https://www.reddit.com/r/SNPedia

rs142181517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142181517(A;A)
Make rs142181517(A;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position178211964
GenePHYKPL
is asnp
is mentioned by
dbSNPrs142181517
ebirs142181517
HLIrs142181517
Exacrs142181517
Varsomers142181517
Maprs142181517
PheGenIrs142181517
hapmaprs142181517
1000 genomesrs142181517
hgdprs142181517
ensemblrs142181517
gopubmedrs142181517
geneviewrs142181517
scholarrs142181517
googlers142181517
pharmgkbrs142181517
gwascentralrs142181517
openSNPrs142181517
23andMers142181517
23andMe allrs142181517
SNP Nexus

SNPshotrs142181517
SNPdbers142181517
MSV3drs142181517
GWAS Ctlgrs142181517
Max Magnitude0
ClinVar
Risk rs142181517(A;A)
Alt rs142181517(A;A)
Reference rs142181517(T;T)
Significance Pathogenic
Disease Phosphohydroxylysinuria
Variation info
Gene PHYKPL
CLNDBN Phosphohydroxylysinuria
Reversed 0
HGVS NC_000005.9:g.177638965T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032770.5,