Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

Table 1 ARG1 mutation carrier frequency in each of the four race groups

SNP Name	Allele patient count	NFE	AFR	AMR	EAS/SAS
rs104893944	28	0.000031	0.000000	0.000339	0.000000
rs104893948	21	0.000016	0.000000	0.000113	0.000050
rs587776539	12	0.000018	0.000000	0.000000	0.000000
rs140549609	8	0.000009	0.000000	0.000000	0.000000
rs753829097	7	0.000009	0.000000	0.000000	0.000000
rs28941474	7	0.000000	0.000000	0.000029	0.000000
rs377280518	6	0.000040	0.000080	0.000000	0.000000
Other^a	139	0.000742	0.000106	0.000923	0.001178
Total	228	0.000865	0.000186	0.001404	0.001228

^aOther is comprised of all mutations that occurred less than 5 times in the 228 alleles

ISSN: 1750-1172