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rs119450941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119450941(A;A)
Make rs119450941(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position40364965
GeneADSL
is asnp
is mentioned by
dbSNPrs119450941
ebirs119450941
HLIrs119450941
Exacrs119450941
Varsomers119450941
Maprs119450941
PheGenIrs119450941
hapmaprs119450941
1000 genomesrs119450941
hgdprs119450941
ensemblrs119450941
gopubmedrs119450941
geneviewrs119450941
scholarrs119450941
googlers119450941
pharmgkbrs119450941
gwascentralrs119450941
openSNPrs119450941
23andMers119450941
23andMe allrs119450941
SNP Nexus

SNPshotrs119450941
SNPdbers119450941
MSV3drs119450941
GWAS Ctlgrs119450941
Max Magnitude0
OMIM608222
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119450941(A;A)
Alt rs119450941(A;A)
Reference rs119450941(G;G)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency not provided
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency not provided
Reversed 0
HGVS NC_000022.10:g.40760969G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002566.6, RCV000186693.2, RCV000190501.1,