Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9
rs730882246
ISCA2 ; NPC2
0.807 0.200 14 74494329 missense variant G/A snv 8
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
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
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 5
rs1057518927
OAT
0.925 0.080 10 124402952 missense variant T/C snv 4
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
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
rs1184021143
SLC25A46
0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06 2
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 2