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rs119450940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119450940(C;C)
Make rs119450940(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position40365000
GeneADSL
is asnp
is mentioned by
dbSNPrs119450940
ebirs119450940
HLIrs119450940
Exacrs119450940
Varsomers119450940
Maprs119450940
PheGenIrs119450940
hapmaprs119450940
1000 genomesrs119450940
hgdprs119450940
ensemblrs119450940
gopubmedrs119450940
geneviewrs119450940
scholarrs119450940
googlers119450940
pharmgkbrs119450940
gwascentralrs119450940
openSNPrs119450940
23andMers119450940
23andMe allrs119450940
SNP Nexus

SNPshotrs119450940
SNPdbers119450940
MSV3drs119450940
GWAS Ctlgrs119450940
Max Magnitude0
OMIM608222
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119450940(C;C)
Alt rs119450940(C;C)
Reference rs119450940(T;T)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40761004T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002565.3,