Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67468335
rs67468335
OTC
0.700 GeneticVariation UNIPROT

dbSNP: rs67501347
rs67501347
OTC
0.700 GeneticVariation UNIPROT

dbSNP: rs67870244
rs67870244
OTC
0.700 GeneticVariation UNIPROT

dbSNP: rs67954347
rs67954347
OTC
0.700 GeneticVariation UNIPROT

dbSNP: rs68033093
rs68033093
OTC
0.700 GeneticVariation UNIPROT

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT In two unrelated male probands with neonatal onset of severe OTC deficiency, a guanine (G) to adenine (A) mutation on the sense strand (antisense cytosine [C] to thymine [T]) was found, resulting in glutamine for arginine at amino acid 109 of the mature polypeptide. 3170748

1988

dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554308
rs72554308
OTC
0.810 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558454
rs72558454
OTC
0.810 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs66550389
rs66550389
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs67486158
rs67486158
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs68031618
rs68031618
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554307
rs72554307
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554312
rs72554312
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554331
rs72554331
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554338
rs72554338
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72554345
rs72554345
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72556260
rs72556260
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72556271
rs72556271
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558412
rs72558412
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558417
rs72558417
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558423
rs72558423
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558449
rs72558449
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs72558465
rs72558465
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988