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rs749788626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Unaffected carrier of an argininosuccinate lyase mutation
(T;T) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66092848
GeneASL
is asnp
is mentioned by
dbSNPrs749788626
ebirs749788626
HLIrs749788626
Exacrs749788626
Varsomers749788626
Maprs749788626
PheGenIrs749788626
hapmaprs749788626
1000 genomesrs749788626
hgdprs749788626
ensemblrs749788626
gopubmedrs749788626
geneviewrs749788626
scholarrs749788626
googlers749788626
pharmgkbrs749788626
gwascentralrs749788626
openSNPrs749788626
23andMers749788626
23andMe allrs749788626
SNP Nexus

SNPshotrs749788626
SNPdbers749788626
MSV3drs749788626
GWAS Ctlgrs749788626
Max Magnitude8
c.1331C>T, p.Ala444Val or A444V

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