Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv 9
rs1060505030
TAF13
0.882 0.240 1 109075001 missense variant A/G;T snv 4
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1060505029
TAF13
0.882 0.240 1 109066220 missense variant A/T snv 5
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
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
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 15
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs762864856
LOC112267935 ; GLRA1
0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 3
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv 6