Table 2. Summary of SNPs in GADD45a gene.
SNP ID | Positiona | Locationb | Allele | Frequ ency AAc | Frequency EAc | Tagging SNP |
rs1511686 | 68,148,921 | c.-318-1939 | T>A | 0.13 | 0.00 | |
– | 68,149,189 | c.-318-1671 | G>A | 0.00 | 0.03 | |
rs115517134 | 68,149,321 | c.-318-1539 | A>G | 0.03 | 0.00 | |
rs188178283 | 68,150,258 | c.-318-602 | G>T | 0.00 | 0.03 | |
rs581000 | 68,150,271 | c.-318-589 | G>C | 0.37 | 0.13 | ** |
rs3783456 | 68,150,622 | c.-318-238 | A>G | 0.03 | 0.00 | |
rs3783457 | 68,150,673 | c.-318-187 | C>A | 0.03 | 0.00 | |
– | 68,150,681 | c.-318-179 | C>G | 0.03 | 0.00 | |
rs1397946 | 68,150,898 | c.-280 | A>T | 0.13 | 0.00 | ** |
rs3783460 | 68,150,931 | c.-247 | T>G | 0.03 | 0.00 | |
rs3783462 | 68,151,227 | c.44+6 | T>A | 0.03 | 0.00 | |
rs3783465 | 68,151,645 | c.45-63 | G>A | 0.03 | 0.00 | |
rs3783466 | 68,151,685 | c.45-23 | C>T | 0.17 | 0.13 | |
rs2759219 | 68,151,980 | c.147-53 | G>T | 0.3 | 0.13 | ** |
rs149179509 | 68,152,171 | c.285 | G>A | 0.00 | 0.03 | |
rs3783468 | 68,152,363 | c.384+93 | G>A | 0.23 | 0.57 | ** |
rs3783469 | 68,152,386 | c.384+116 | T>C | 0.03 | 0.13 | ** |
rs681673 | 68,152,388 | c.384+118 | C>T | 0.5 | 0.27 | |
rs532446 | 68,152,438 | c.384+168 | T>C | 0.5 | 0.27 | ** |
rs3783472 | 68,152,558 | c.384+288 | G>C | 0.03 | 0.00 | |
rs143275022 | 68,152,736 | c.384+466 | del T | 0.00 | 0.03 | |
rs3171012 | 68,153,206 | c.385-138 | T>C | 0.17 | 0.13 | ** |
rs3046000 | 68,153,271–68,153,279 | c.385-73_385-65 | del (9nt) | 0.1 | 0.00 | ** |
rs3783478# | 68,153,451 | c.492 | A>G | 0.13 | 0.00 | ** |
rs3783479 | 68,153,484 | c.*27 | C>T | 0.03 | 0.00 | |
rs607375 | 68,154,086 | c. * 564+65 | C>G | 0.4 | 0.27 | ** |
rs3783482 | 68,154,204 | c.*564+183 | C>T | 0.03 | 0.00 | |
rs3783483 | 68,154,208 | c.*564+187 | G>A | 0.07 | 0.00 | ** |
rs606470 | 68,154,299 | c. * 564+278 | T>C | 0.23 | 0.03 | ** |
rs77985416 | 68,154,373 | c.*564+352 | G>A | 0.03 | 0.00 | |
Rs78379425 | 68,154,466 | c.*564+445 | G>A | 0.03 | 0.00 |
Position on chromosome 1 according to NCBI Build 37.
Location relative to reference sequence NM_001924.3.
Represents minor allele frequency in gene resequencing data in 15 African American (AA) and 15 European American (EA).
Boldface highlights SNPs genotyped in both Chicago and Spanish study.
** Represents tagging SNP.
* Represents 3′UTR region.
# represents synonymous SNP (Glu164Glu).