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rs119450942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119450942(C;G)
Make rs119450942(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position40349976
GeneADSL
is asnp
is mentioned by
dbSNPrs119450942
ebirs119450942
HLIrs119450942
Exacrs119450942
Varsomers119450942
Maprs119450942
PheGenIrs119450942
hapmaprs119450942
1000 genomesrs119450942
hgdprs119450942
ensemblrs119450942
gopubmedrs119450942
geneviewrs119450942
scholarrs119450942
googlers119450942
pharmgkbrs119450942
gwascentralrs119450942
openSNPrs119450942
23andMers119450942
23andMe allrs119450942
SNP Nexus

SNPshotrs119450942
SNPdbers119450942
MSV3drs119450942
GWAS Ctlgrs119450942
Max Magnitude0
OMIM608222
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119450942(G;G)
Alt rs119450942(G;G)
Reference rs119450942(C;C)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40745980C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002567.4,