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rs587777126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777126(A;C)
Make rs587777126(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position122113140
GeneAASS
is asnp
is mentioned by
dbSNPrs587777126
ebirs587777126
HLIrs587777126
Exacrs587777126
Varsomers587777126
Maprs587777126
PheGenIrs587777126
hapmaprs587777126
1000 genomesrs587777126
hgdprs587777126
ensemblrs587777126
gopubmedrs587777126
geneviewrs587777126
scholarrs587777126
googlers587777126
pharmgkbrs587777126
gwascentralrs587777126
openSNPrs587777126
23andMers587777126
23andMe allrs587777126
SNP Nexus

SNPshotrs587777126
SNPdbers587777126
MSV3drs587777126
GWAS Ctlgrs587777126
Max Magnitude0
ClinVar
Risk rs587777126(A,C;A,C)
Alt rs587777126(A,C;A,C)
Reference rs587777126(T;T)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 1
HGVS NC_000007.13:g.121753194A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087047.4,