Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1057518829
CACNA1F
1.000 0.040 X 49230343 stop gained T/A snv 2
rs104894910
NYX
0.882 0.080 X 41473734 missense variant G/C snv 1
rs9330813
WNT7B
1.000 0.040 22 45968281 intron variant G/A;C snv 3
rs10453441
WNT7B
1.000 0.040 22 45967859 intron variant A/G snv 0.40 2
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs397515624
CRYAA ; LOC107987300
0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 1
rs73157695 1.000 0.040 21 45952033 intergenic variant G/A snv 0.29 1
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs2274755
MMP9
0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 1
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs12965607
MYO5B
1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01 1
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs9747347
TSPAN10 ; NPLOC4
1.000 0.040 17 81639794 intron variant T/A;C;G snv 2
rs10512441 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 1
rs11658305 1.000 0.040 17 7526004 intergenic variant A/C;T snv 1
rs2908972
SHISA6
1.000 0.040 17 11503942 intron variant T/A snv 0.39 1
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1057518938
NDE1 ; MYH11
0.882 0.080 16 15724166 missense variant C/G snv 5
rs10500355
RBFOX1
0.925 0.040 16 7409346 intron variant T/A snv 0.29 3
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87