Source: CLINVAR ×
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
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs777476179
ALMS1
0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 5
rs1057518767
ABCA4
0.851 0.120 1 94098874 missense variant A/T snv 4
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 2