Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7521023
CASQ2
1.000 0.040 1 115700759 3 prime UTR variant G/A snv 0.64 2
rs1544223
ADORA3 ; TMIGD3
1.000 0.040 1 111503935 intron variant C/T snv 0.72 1
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs10189761 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 4
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 4
rs10932374
ERBB4
0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 2
rs13003941
ERBB4
0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 2
rs1595064
ERBB4
0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 2
rs1595065
ERBB4
0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 2
rs3748960
ERBB4
0.925 0.040 2 211383109 3 prime UTR variant C/T snv 0.96 2
rs1009388
POMC
1.000 0.040 2 25168232 intron variant G/C snv 0.18 1
rs3754860
POMC
1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22 1
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs5186
AGTR1
0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 10
rs9838915
KLF15
0.882 0.120 3 126347377 intron variant G/A snv 0.19 4
rs1805126
SCN5A
0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 2
rs6787362
FRMD4B
0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 2
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1799895
SOD3
0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs1022113606
SOD3
0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 17
rs1258130495
EDNRA
0.882 0.040 4 147485727 missense variant G/A snv 3
rs899115126
EDNRA
0.882 0.080 4 147542603 missense variant G/C snv 3
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63