Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1060505029
TAF13
0.882 0.240 1 109066220 missense variant A/T snv 5
rs1060505030
TAF13
0.882 0.240 1 109075001 missense variant A/G;T snv 4
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs794729664
PTEN
0.925 0.240 10 87952170 stop gained T/A;C;G snv 3
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
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
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
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
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9