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rs752100894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 Unaffected carrier of an argininosuccinate lyase mutation
(G;G) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66082420
GeneASL
is asnp
is mentioned by
dbSNPrs752100894
ebirs752100894
HLIrs752100894
Exacrs752100894
Varsomers752100894
Maprs752100894
PheGenIrs752100894
hapmaprs752100894
1000 genomesrs752100894
hgdprs752100894
ensemblrs752100894
gopubmedrs752100894
geneviewrs752100894
scholarrs752100894
googlers752100894
pharmgkbrs752100894
gwascentralrs752100894
openSNPrs752100894
23andMers752100894
23andMe allrs752100894
SNP Nexus

SNPshotrs752100894
SNPdbers752100894
MSV3drs752100894
GWAS Ctlgrs752100894
Max Magnitude8
c.260A>G, p.Asp87Gly or D87G

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