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rs119450945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119450945(C;C)
Make rs119450945(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position40359279
GeneADSL
is asnp
is mentioned by
dbSNPrs119450945
ebirs119450945
HLIrs119450945
Exacrs119450945
Varsomers119450945
Maprs119450945
PheGenIrs119450945
hapmaprs119450945
1000 genomesrs119450945
hgdprs119450945
ensemblrs119450945
gopubmedrs119450945
geneviewrs119450945
scholarrs119450945
googlers119450945
pharmgkbrs119450945
gwascentralrs119450945
openSNPrs119450945
23andMers119450945
23andMe allrs119450945
SNP Nexus

SNPshotrs119450945
SNPdbers119450945
MSV3drs119450945
GWAS Ctlgrs119450945
Max Magnitude0
OMIM608222
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119450945(C;C)
Alt rs119450945(C;C)
Reference rs119450945(T;T)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40755283T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002572.3,