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rs751590073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Argininosuccinate lyase deficiency
(A;G) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66086764
GeneASL
is asnp
is mentioned by
dbSNPrs751590073
ebirs751590073
HLIrs751590073
Exacrs751590073
Varsomers751590073
Maprs751590073
PheGenIrs751590073
hapmaprs751590073
1000 genomesrs751590073
hgdprs751590073
ensemblrs751590073
gopubmedrs751590073
geneviewrs751590073
scholarrs751590073
googlers751590073
pharmgkbrs751590073
gwascentralrs751590073
openSNPrs751590073
23andMers751590073
23andMe allrs751590073
SNP Nexus

SNPshotrs751590073
SNPdbers751590073
MSV3drs751590073
GWAS Ctlgrs751590073
Max Magnitude8

c.545G>A, p.Arg182Gln or R182Q

ClinVar
Risk rs751590073(A;A)
Alt rs751590073(A;A)
Reference rs751590073(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65551751G>A
CLNSRC
CLNACC RCV000185763.1,