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rs138310841

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
Position66082919
GeneASL
is asnp
is mentioned by
dbSNPrs138310841
ebirs138310841
HLIrs138310841
Exacrs138310841
Varsomers138310841
Maprs138310841
PheGenIrs138310841
hapmaprs138310841
1000 genomesrs138310841
hgdprs138310841
ensemblrs138310841
gopubmedrs138310841
geneviewrs138310841
scholarrs138310841
googlers138310841
pharmgkbrs138310841
gwascentralrs138310841
openSNPrs138310841
23andMers138310841
23andMe allrs138310841
SNP Nexus

SNPshotrs138310841
SNPdbers138310841
MSV3drs138310841
GWAS Ctlgrs138310841
Max Magnitude8
c.331C>T, p.Arg111Trp or R111W

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