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rs373697663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Argininosuccinate lyase deficiency
(A;G) 3 Unaffected carrier of an argininosuccinate lyase mutation
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66086797
GeneASL
is asnp
is mentioned by
dbSNPrs373697663
ebirs373697663
HLIrs373697663
Exacrs373697663
Varsomers373697663
Maprs373697663
PheGenIrs373697663
hapmaprs373697663
1000 genomesrs373697663
hgdprs373697663
ensemblrs373697663
gopubmedrs373697663
geneviewrs373697663
scholarrs373697663
googlers373697663
pharmgkbrs373697663
gwascentralrs373697663
openSNPrs373697663
23andMers373697663
23andMe allrs373697663
SNP Nexus

SNPshotrs373697663
SNPdbers373697663
MSV3drs373697663
GWAS Ctlgrs373697663
Max Magnitude8
c.578G>A, p.Arg193Gln or R193Q

pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]