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
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
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
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
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 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
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 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
rs398123339
ABCA4
0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 5