Method | Existing variation | Location | Gene Symbol | Exon Number | SIFT |
---|---|---|---|---|---|
Exomic | rs335136145 | 12:38026003–38,026,003 | MYO19 | 21/26 | tolerated (0.36) |
rs335136145 | 12:38026003–38,026,003 | MYO19 | 21/27 | tolerated (0.36) | |
rs335136145 | 12:38026003–38,026,003 | MYO19 | 18/23 | tolerated (0.32) | |
new | 12:55146905–55,146,905 | MYH8 | 23/41 | tolerated (0.53) | |
new | 12:55146905–55,146,905 | MYH8 | 22/40 | tolerated (0.52) | |
new | 12:55146905–55,146,905 | MYH8 | 24/42 | tolerated (0.49) | |
new | 12:55267170–55,267,170 | MHY2 | 20/40 | tolerated (1) | |
new | 12:55267170–55,267,170 | MHY2 | 19/39 | tolerated (1) | |
new | 12:55267170–55,267,170 | MHY2 | 21/41 | tolerated (1) | |
rs337918521 | 3:16960969–16,960,969 | ZNF713 | 6/6 | deleterious (0.02) | |
rs323115420 | 3:16964045–16,964,045 | ZNF713 | 5/6 | tolerated (0.65) | |
new | 3:17033960–17,033,960 | ENSSSCG00000036685 | 1/1 | tolerated low confidence (0.07) | |
new | 3:17034293–17,034,293 | ENSSSCG00000036685 | 1/1 | tolerated low confidence (1) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/30 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 2/30 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/31 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 2/31 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/32 | deleterious (0.01) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 3/4 | tolerated (0.11) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 2/4 | tolerated (0.1) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 1/2 | tolerated (0.08) | |
rs330957838 | 3:17468302–17,468,302 | SETD1A | 16/21 | tolerated low confidence (0.34) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 15/22 | tolerated (0.62) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 14/21 | tolerated (0.62) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 13/20 | tolerated (0.6) | |
rs325089032 | 6:81571496–81,571,496 | ELOA | 2/11 | tolerated (0.1) | |
rs325089032 | 6:81571496–81,571,496 | ELOA | 2/12 | tolerated (0.1) | |
rs696812713 | 8:6157581–6,157,581 | OTOP1 | 7/8 | tolerated (0.58) | |
rs712855168 | 8:6157582–6,157,582 | OTOP1 | 7/8 | tolerated (0.53) | |
Transcriptomic | rs325089032 | 6:81571496–81,571,496 | ELOA | 2/11 | tolerated (0.1) |
rs325089032 | 6:81571496–81,571,496 | ELOA | 2/12 | tolerated (0.1) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/30 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 2/30 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/31 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 2/31 | deleterious (0.01) | |
rs327289001 | 3:17254444–17,254,444 | ITGAM | 3/32 | deleterious (0.01) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 15/22 | tolerated (0.62) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 14/21 | tolerated (0.62) | |
rs789266896 | 3:17628688–17,628,688 | RNF40 | 13/20 | tolerated (0.6) | |
rs330957838 | 3:17468302–17,468,302 | SETD1A | 16/21 | tolerated low confidence (0.34) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 3/4 | tolerated (0.11) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 2/4 | tolerated (0.1) | |
rs337670844 | 3:17399477–17,399,477 | ZNF646 | 1/2 | tolerated (0.08) | |
rs323115420 | 3:16964045–16,964,045 | ZNF713 | 5/6 | tolerated (0.65) |