Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs1114167422
SNORA56 ; DKC1
0.776 0.320 X 154773148 missense variant A/G snv 11
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs121908120
WNT10A
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 7
rs80356779
CPT1A
0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 2
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs2232387
KRT75
1.000 0.040 12 52433824 missense variant C/T snv 0.13 0.14 1