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rs119450943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119450943(G;T)
Make rs119450943(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position40364952
GeneADSL
is asnp
is mentioned by
dbSNPrs119450943
ebirs119450943
HLIrs119450943
Exacrs119450943
Varsomers119450943
Maprs119450943
PheGenIrs119450943
hapmaprs119450943
1000 genomesrs119450943
hgdprs119450943
ensemblrs119450943
gopubmedrs119450943
geneviewrs119450943
scholarrs119450943
googlers119450943
pharmgkbrs119450943
gwascentralrs119450943
openSNPrs119450943
23andMers119450943
23andMe allrs119450943
SNP Nexus

SNPshotrs119450943
SNPdbers119450943
MSV3drs119450943
GWAS Ctlgrs119450943
Max Magnitude0
OMIM608222
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119450943(T;T)
Alt rs119450943(T;T)
Reference rs119450943(G;G)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40760956G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002568.4,