Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 34
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 23
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 19
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 9
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 7
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7