Table 3.
Nucleotide change | MAF (M/m) SUNDS | Control | EAS-CHSa | EASa | EASb | SASa | SASb |
Mutations in EAS | |||||||
c.−2G>T (rs762951776) | 0.00568 (175/1) | 0.00000 (440/0) | Undetected | Undetected | 0.00000 (4028/0) | Undetected | 0.00000 (6256/0) |
c.385G>A (rs762144273) | 0.00442 (225/1) | 0.00000 (440/0) | Undetected | Undetected | 0.00000 (8640/0) | Undetected | 0.00006 (16,481/1) |
Rare polymorphism in EAS | |||||||
c.206C>T (rs140389574) | 0.00568 (175/1) | 0.00000 (440/0) | 0.00000 (210/0) | 0.00000 (1008/0) | 0.00208 (8630/18) | 0.02249 (956/22) | 0.01836 (16,197/303) |
Common polymorphism in EAS | |||||||
c.453C>T (rs12229290) | 0.00885 (224/2) | 0.02045 (431/9) | 0.01905 (206/4) | 0.02778 (980/28) | 0.02953 (8379/255) | 0.00000 (978/0) | 0.00000 (16,470/0) |
Nucleotide change | MAF (M/m) EURa | EURb | AFRa | AFRb | AMRa | Latinob | |
Mutations in EAS | |||||||
c.−2G>T (rs762951776) | Undetected | 0.00003 (35,995/1) | Undetected | 0.00000 (5452/0) | Undetected | 0.00000 (4998/0) | |
c.385G>A (rs762144273) | Undetected | 0.00000 (73,188/0) | Undetected | 0.00000 (10,324/0) | Undetected | 0.00000 (11,560/0) | |
Rare polymorphism in EAS | |||||||
c.206C>T (rs140389574) | 0.00000 (1006/0) | 0.00014 (73,176/10) | 0.00000 (1322/0) | 0.00000 (10,376/0) | 0.00000 (694/0) | 0.00009 (11,551/1) | |
Common polymorphism in EAS | |||||||
c.453C>T (rs12229290) | 0.00000 (1006/0) | 0.00001 (73,131/1) | 0.00000 (1322/0) | 0.00000 (10,284/0) | 0.00000 (694/0) | 0.00017 (11,548/2) |
MAF minor allele frequency, M major allele, m minor allele
1000 Genomes Project Phase 3
ExAC