From: Folliculin mutations are not associated with severe COPD
dbSNP | Genomic position* | mRNA position^{†} | Location or ΔAA^{†} | Alleles^{†} | MAF | phastCons Score |
---|---|---|---|---|---|---|
rs1736208 | 17081408 | - | Genomic | G>A | 0.25 | 0 |
rs1736209 | 17081210 | c.-487 | 5' UTR | G>C | 0.27 | 0 |
rs41345949 | 17081025 | c.-302 | 5' UTR | C>T | 0.06 | 0 |
rs1708629 | 17081022 | c.-299 | 5' UTR | A>G | 0.43 | 0 |
rs41337846 | 17079957 | c.-228+994 | IVS | T>C | 0.14 | 0.0007 |
rs41388547 | 17079583 | c.-228+1368 | IVS | C>A | 0.01 | 0 |
rs8069957 | 17075898 | c.-90 | 5' UTR | T>C | 0.01 | 0.001 |
rs1736212 | 17075733 | c.-25+100 | IVS | C>G | 0.27 | 0 |
rs41525346 | 17070156 | c.396+59 | IVS | A>G | 0.07 | 0 |
rs1736219 | 17068196 | c.397-14 | IVS | A>G | 0.49 | 0 |
rs2292527 | 17066766 | c.619-66 | IVS | G>A | 0.06 | 0 |
rs41356848 | 17066427 | c.779+113 | IVS | G>A | 0.05 | 0 |
rs3744124 | 17065540 | c.871+36 | IVS ^{‡} | C>T | 0.05 | 0 |
rs41462849 | 17065372 | c.871+204 | IVS | T>C | 0.01 | 0 |
rs41400246 | 17065350 | c.871+226 | IVS | C>T | 0.10 | 0 |
rs41323249 | 17064892 | c.871+684 | IVS | C>T | 0.13 | 0 |
rs8065832 | 17063052 | c.1062+6 | IVS | A>G | 0.48 | 0.008 |
rs4985705 | 17061393 | c.1063-172 | IVS | C>G | 0.41 | 0 |
rs4985751 | 17061338 | c.1063-117 | IVS | G>A | 0.02 | 0 |
rs41340844 | 17061077 | c.1176+31 | IVS | C>T | 0.01 | 0 |
rs41424546 | 17061069 | c.1176+39 | IVS | C>T | 0.10 | 0 |
rs41364753 | 17061040 | c.1176+68 | IVS | C>G | 0.04 | 0 |
rs41371953 | 17060974 | c.1176+134 | IVS | C>G | 0.04 | 0 |
rs7208065 | 17060929 | c.1176+179 | IVS | C>T | 0.42 | 0 |
rs34520621 | 17060707 | c.1177-165 | IVS | G>A | 0.04 | 0 |
rs41464156 | 17060450 | c.1269 | p.His423His | G>A | 0.01 | 0.86 |
rs41459448 | 17060441 | c.1278 | p.Ile426Ile | G>A | 0.01 | 0.99 |
rs34311146 | 17059414 | c.1301-59 | IVS | G>A | 0.30 | 0 |
rs41419545 | 17059323 | c.1333 | p.Ala445Thr | C>T | 0.01 | 0 |
rs34235236 | 17059167 | c.1433-38 | IVS | T>C | 0.17 | 0 |
rs41442248 | 17058903 | c.1538+121 | IVS | G>A | 0.01 | 0 |