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rs587777123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs587777123(-;-)
Make rs587777123(-;TG)
ReferenceGRCh38 38.1/142
Chromosome7
Position122115140
GeneAASS
is asnp
is mentioned by
dbSNPrs587777123
ebirs587777123
HLIrs587777123
Exacrs587777123
Varsomers587777123
Maprs587777123
PheGenIrs587777123
hapmaprs587777123
1000 genomesrs587777123
hgdprs587777123
ensemblrs587777123
gopubmedrs587777123
geneviewrs587777123
scholarrs587777123
googlers587777123
pharmgkbrs587777123
gwascentralrs587777123
openSNPrs587777123
23andMers587777123
23andMe allrs587777123
SNP Nexus

SNPshotrs587777123
SNPdbers587777123
MSV3drs587777123
GWAS Ctlgrs587777123
Max Magnitude0
ClinVar
Risk rs587777123(;)
Alt rs587777123(;)
Reference rs587777123(TG;TG)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 0
HGVS NC_000007.13:g.121755194_121755195delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000087044.3,