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rs587777125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777125(C;T)
Make rs587777125(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position122133533
GeneAASS
is asnp
is mentioned by
dbSNPrs587777125
ebirs587777125
HLIrs587777125
Exacrs587777125
Varsomers587777125
Maprs587777125
PheGenIrs587777125
hapmaprs587777125
1000 genomesrs587777125
hgdprs587777125
ensemblrs587777125
gopubmedrs587777125
geneviewrs587777125
scholarrs587777125
googlers587777125
pharmgkbrs587777125
gwascentralrs587777125
openSNPrs587777125
23andMers587777125
23andMe allrs587777125
SNP Nexus

SNPshotrs587777125
SNPdbers587777125
MSV3drs587777125
GWAS Ctlgrs587777125
Max Magnitude0
ClinVar
Risk rs587777125(T;T)
Alt rs587777125(T;T)
Reference rs587777125(C;C)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 0
HGVS NC_000007.13:g.121773587C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087046.3,