Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 15
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 7
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4
rs145588689
ADAR
0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 4
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553212545
POGZ
1.000 1 151406046 stop gained G/A snv 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins 3
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 3
rs779357448
ADAR
0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05 3
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs143657539
PPT1
1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 2
rs1468358104
FLVCR1 ; FLVCR1-DT
1 212858454 start lost T/C snv 3.7E-05 2
rs1553182964
NFIA
1 61404170 frameshift variant ACTT/- delins 2
rs1553252938
EMC1 ; EMC1-AS1
1 19232655 missense variant G/T snv 2
rs1553262429
GJC2
1.000 1 228157838 stop gained G/A snv 2
rs1553262430
GJC2
1.000 1 228157841 missense variant T/C snv 2
rs875989786
ZBTB18
1.000 1 244054957 stop gained C/T snv 2
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 2
rs899735028
FLVCR1-DT ; FLVCR1
1 212858455 start lost G/T snv 1.4E-05 2
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs1413339367
SLC2A1
1 42930661 stop gained G/A snv 1
rs1553245178
ATP1A2
1 160130548 missense variant G/A snv 1
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5