Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 8
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 6
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins 5
rs397514452
ADK
1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 5
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv 4
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs1565339091
LOC107984406 ; HEPACAM
1.000 0.200 11 124924796 missense variant T/C snv 4
rs1567773470
GFAP
1.000 0.120 17 44911238 missense variant G/C snv 4
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins 4
rs876661308
MEF2C
1.000 5 88823780 missense variant T/A snv 4
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs878853280
FRRS1L
1.000 9 109137529 stop gained G/A snv 4