Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 8
rs397514477
C19orf12
0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 5
rs587777175
TFG
0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06 2
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs730882240
PIGQ
1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 3
rs730882246
ISCA2 ; NPC2
0.807 0.200 14 74494329 missense variant G/A snv 8
rs74315205
WFS1 ; LOC107986257
0.807 0.360 4 6302385 missense variant G/A snv 7
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 3
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs759218713
MECR
0.882 0.080 1 29196235 missense variant T/C snv 8.0E-06 7.0E-06 3
rs762913101
MECR
0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 3
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs80356524
OPA3
0.882 0.200 19 45553777 missense variant C/T snv 3
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9