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rs374259530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs374259530(C;C)
Make rs374259530(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position40350018
GeneADSL
is asnp
is mentioned by
dbSNPrs374259530
dbSNP (old)rs374259530
ClinGenrs374259530
ebirs374259530
HLIrs374259530
Exacrs374259530
Gnomadrs374259530
Varsomers374259530
Maprs374259530
PheGenIrs374259530
Biobankrs374259530
1000 genomesrs374259530
hgdprs374259530
ensemblrs374259530
gopubmedrs374259530
geneviewrs374259530
scholarrs374259530
googlers374259530
pharmgkbrs374259530
gwascentralrs374259530
openSNPrs374259530
23andMers374259530
23andMe allrs374259530
SNP Nexus

SNPshotrs374259530
SNPdbers374259530
MSV3drs374259530
GWAS Ctlgrs374259530
Max Magnitude0
ClinVar
Risk rs374259530(C;C)
Alt rs374259530(C;C)
Reference Rs374259530(T;T)
Significance Pathogenic
Disease not provided Adenylosuccinate lyase deficiency Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Variation info
Gene ADSL
CLNDBN not provided Adenylosuccinate lyase deficiency Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Reversed 0
HGVS NC_000022.10:g.40746022T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000186703.1, RCV000193076.1, RCV000415212.1,