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rs767543051

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
Position66082925
GeneASL
is asnp
is mentioned by
dbSNPrs767543051
ebirs767543051
HLIrs767543051
Exacrs767543051
Varsomers767543051
Maprs767543051
PheGenIrs767543051
hapmaprs767543051
1000 genomesrs767543051
hgdprs767543051
ensemblrs767543051
gopubmedrs767543051
geneviewrs767543051
scholarrs767543051
googlers767543051
pharmgkbrs767543051
gwascentralrs767543051
openSNPrs767543051
23andMers767543051
23andMe allrs767543051
SNP Nexus

SNPshotrs767543051
SNPdbers767543051
MSV3drs767543051
GWAS Ctlgrs767543051
Max Magnitude8
c.337C>T, p.Arg113Trp or R113W

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