Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1020764190
AFG3L2
0.925 0.120 18 12351330 missense variant G/A snv 1
rs104893753
OPA1
0.925 0.080 3 193643005 stop gained C/T snv 1
rs104894270
NDUFS3
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 1
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 5
rs1057518927
OAT
0.925 0.080 10 124402952 missense variant T/C snv 4
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
rs1184021143
SLC25A46
0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06 2
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv 3
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs145192716
MECR
0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 3
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 5
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 2
rs28939714
NDUFS3
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 1
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs374997012
TWNK ; MRPL43
0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 9
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 2
rs397514477
C19orf12
0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 2
rs587777175
TFG
0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06 1
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