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rs28941471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941471(A;A)
Make rs28941471(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position40358950
GeneADSL
is asnp
is mentioned by
dbSNPrs28941471
ebirs28941471
HLIrs28941471
Exacrs28941471
Varsomers28941471
Maprs28941471
PheGenIrs28941471
hapmaprs28941471
1000 genomesrs28941471
hgdprs28941471
ensemblrs28941471
gopubmedrs28941471
geneviewrs28941471
scholarrs28941471
googlers28941471
pharmgkbrs28941471
gwascentralrs28941471
openSNPrs28941471
23andMers28941471
23andMe allrs28941471
SNP Nexus

SNPshotrs28941471
SNPdbers28941471
MSV3drs28941471
GWAS Ctlgrs28941471
Max Magnitude0
OMIM608222
DescADENYLOSUCCINASE DEFICIENCY
Variant0005
Relatedalso
ClinVar
Risk rs28941471(A;A)
Alt rs28941471(A;A)
Reference rs28941471(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.40754954G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002569.4, RCV000186674.2,