Table 3.
Rare variants identified in the chromosome 10q locus, linked with AITD (GD + HT)
| SNV | Position | T | U | P value | Transcript | Location of SNV | Common allele | Rare variant |
|---|---|---|---|---|---|---|---|---|
| AITD10.1001 | 58,194,262 | 0 | 9 | 0.0027 | NM_152230:IPMK | exonic | C | T |
| AITD10.1002 | 58,191,598 | 0 | 6 | 0.01431 | NM_152230:IPMK | exonic | T | A |
| AITD10.1003 | 58,192,372 | 0 | 6 | 0.01431 | NM_152230:IPMK | exonic | A | G |
| AITD10.1004 | 58,192,884 | 0 | 6 | 0.01431 | NM_152230:IPMK | exonic | A | G |
| AITD10.1005 | 58,193,478 | 0 | 6 | 0.01431 | NM_152230:IPMK | exonic | C | A |
| AITD10.1006 | 58,195,625 | 0 | 6 | 0.01431 | NM_152230:IPMK | exonic | G | A |
| AITD10.1007 | 58,193,779 | 1 | 8 | 0.01963 | NM_152230:IPMK | exonic | C | T |
| AITD10.1008 | 58,193,436 | 2 | 10 | 0.02092 | NM_152230:IPMK | exonic | C | T |
| AITD10.1009 | 58,191,617 | 0 | 5 | 0.02535 | NM_152230:IPMK | exonic | A | G |
| AITD10.1010 | 58,191,894 | 0 | 5 | 0.02535 | NM_152230:IPMK | exonic | T | C |
| AITD10.1011 | 58,195,907 | 0 | 5 | 0.02535 | NM_152230:IPMK | exonic | G | _ |
| AITD10.1012 | 58,195,589 | 1 | 7 | 0.03389 | NM_152230:IPMK | exonic | GT | CC |
| AITD10.1013 | 58,195,995 | 1 | 7 | 0.03389 | NM_152230:IPMK | exonic | A | G |
Abbreviations: SNV, single nucleotide variant; T, transmitted to affected offspring; U, untransmitted to affected offspring.