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rs756210458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756210458(C;T)
Make rs756210458(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position40354266
GeneADSL
is asnp
is mentioned by
dbSNPrs756210458
dbSNP (classic)rs756210458
ClinGenrs756210458
ebirs756210458
HLIrs756210458
Exacrs756210458
Gnomadrs756210458
Varsomers756210458
LitVarrs756210458
Maprs756210458
PheGenIrs756210458
Biobankrs756210458
1000 genomesrs756210458
hgdprs756210458
ensemblrs756210458
geneviewrs756210458
scholarrs756210458
googlers756210458
pharmgkbrs756210458
gwascentralrs756210458
openSNPrs756210458
23andMers756210458
SNPshotrs756210458
SNPdbers756210458
MSV3drs756210458
GWAS Ctlgrs756210458
Max Magnitude0
ClinVar
Risk rs756210458(T;T)
Alt rs756210458(T;T)
Reference Rs756210458(C;C)
Significance Pathogenic
Disease not provided Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Variation info
Gene ADSL
CLNDBN not provided Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Reversed 0
HGVS NC_000022.10:g.40750270C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000186711.1, RCV000415081.1,