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rs201105857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201105857(C;T)
Make rs201105857(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position178222564
GenePHYKPL
is asnp
is mentioned by
dbSNPrs201105857
ebirs201105857
HLIrs201105857
Exacrs201105857
Varsomers201105857
Maprs201105857
PheGenIrs201105857
hapmaprs201105857
1000 genomesrs201105857
hgdprs201105857
ensemblrs201105857
gopubmedrs201105857
geneviewrs201105857
scholarrs201105857
googlers201105857
pharmgkbrs201105857
gwascentralrs201105857
openSNPrs201105857
23andMers201105857
23andMe allrs201105857
SNP Nexus

SNPshotrs201105857
SNPdbers201105857
MSV3drs201105857
GWAS Ctlgrs201105857
Max Magnitude0
ClinVar
Risk rs201105857(T;T)
Alt rs201105857(T;T)
Reference rs201105857(C;C)
Significance Pathogenic
Disease Phosphohydroxylysinuria
Variation info
Gene PHYKPL
CLNDBN Phosphohydroxylysinuria
Reversed 0
HGVS NC_000005.9:g.177649565C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032769.5,