Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 15
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv 11
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10