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rs769960006

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
Position66086614
GeneASL
is asnp
is mentioned by
dbSNPrs769960006
ebirs769960006
HLIrs769960006
Exacrs769960006
Varsomers769960006
Maprs769960006
PheGenIrs769960006
hapmaprs769960006
1000 genomesrs769960006
hgdprs769960006
ensemblrs769960006
gopubmedrs769960006
geneviewrs769960006
scholarrs769960006
googlers769960006
pharmgkbrs769960006
gwascentralrs769960006
openSNPrs769960006
23andMers769960006
23andMe allrs769960006
SNP Nexus

SNPshotrs769960006
SNPdbers769960006
MSV3drs769960006
GWAS Ctlgrs769960006
Max Magnitude8
c.476C>T, p.Thr159Ile or T159I

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