Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs1559751245
MITF
0.882 0.280 3 69959280 missense variant C/G snv 6
rs61749455
ABCA4
0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 2
rs74653330
OCA2
0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 2
rs387907217
KIT
0.882 0.120 4 54727907 missense variant T/C snv 1
rs119473031
MLPH
0.882 0.320 2 237493529 missense variant C/A;T snv 2.4E-05 1