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rs119450944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119450944(A;G)
Make rs119450944(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position40360436
GeneADSL
is asnp
is mentioned by
dbSNPrs119450944
dbSNP (old)rs119450944
ClinGenrs119450944
ebirs119450944
HLIrs119450944
Exacrs119450944
Gnomadrs119450944
Varsomers119450944
Maprs119450944
PheGenIrs119450944
Biobankrs119450944
1000 genomesrs119450944
hgdprs119450944
ensemblrs119450944
gopubmedrs119450944
geneviewrs119450944
scholarrs119450944
googlers119450944
pharmgkbrs119450944
gwascentralrs119450944
openSNPrs119450944
23andMers119450944
23andMe allrs119450944
SNP Nexus

SNPshotrs119450944
SNPdbers119450944
MSV3drs119450944
GWAS Ctlgrs119450944
Max Magnitude0
OMIM608222
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119450944(G;G)
Alt rs119450944(G;G)
Reference Rs119450944(A;A)
Significance Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40756440A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002570.4,