Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 5
rs1057519286
MECR
0.882 0.080 1 29196234 stop gained A/C;G snv 3
rs1057519287
MECR
0.882 0.080 1 29216612 frameshift variant TGAT/- delins 3
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv 3
rs145192716
MECR
0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 3
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
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
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
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 4
rs104893753
OPA1
0.925 0.080 3 193643005 stop gained C/T snv 1
rs587777175
TFG
0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06 1
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 2
rs74315205
WFS1 ; LOC107986257
0.807 0.360 4 6302385 missense variant G/A snv 2
rs1184021143
SLC25A46
0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06 2
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 1
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64