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rs587777122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777122(C;C)
Make rs587777122(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position122116653
GeneAASS
is asnp
is mentioned by
dbSNPrs587777122
ebirs587777122
HLIrs587777122
Exacrs587777122
Varsomers587777122
Maprs587777122
PheGenIrs587777122
hapmaprs587777122
1000 genomesrs587777122
hgdprs587777122
ensemblrs587777122
gopubmedrs587777122
geneviewrs587777122
scholarrs587777122
googlers587777122
pharmgkbrs587777122
gwascentralrs587777122
openSNPrs587777122
23andMers587777122
23andMe allrs587777122
SNP Nexus

SNPshotrs587777122
SNPdbers587777122
MSV3drs587777122
GWAS Ctlgrs587777122
Max Magnitude0
ClinVar
Risk rs587777122(C,T;C,T)
Alt rs587777122(C,T;C,T)
Reference rs587777122(A;A)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 1
HGVS NC_000007.13:g.121756707T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087043.4,