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rs587777124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777124(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position122091794
GeneAASS
is asnp
is mentioned by
dbSNPrs587777124
ebirs587777124
HLIrs587777124
Exacrs587777124
Varsomers587777124
Maprs587777124
PheGenIrs587777124
hapmaprs587777124
1000 genomesrs587777124
hgdprs587777124
ensemblrs587777124
gopubmedrs587777124
geneviewrs587777124
scholarrs587777124
googlers587777124
pharmgkbrs587777124
gwascentralrs587777124
openSNPrs587777124
23andMers587777124
23andMe allrs587777124
SNP Nexus

SNPshotrs587777124
SNPdbers587777124
MSV3drs587777124
GWAS Ctlgrs587777124
Max Magnitude0
ClinVar
Risk rs587777124(G;G)
Alt rs587777124(G;G)
Reference rs587777124(C;C)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 1
HGVS NC_000007.13:g.121731848G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087045.4,