Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 18
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs33912345
C14orf39 ; SIX6
0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 7
rs74315439
CRYAA ; LOC107987300
0.790 0.200 21 43172104 missense variant C/A;T snv 7
rs370866589
SMOC1
0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 7
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 6
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs193929392
ARHGAP6 ; HCCS
0.851 0.120 X 11118574 missense variant G/A snv 4
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 4
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv 4
rs121912543
VSX2
0.851 0.080 14 74259621 missense variant G/A;C snv 4
rs1028344225
RARB
0.925 0.120 3 25596566 missense variant C/T snv 3