Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del 7
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs1057519560
MYT1L
1.000 2 1917264 missense variant A/G snv 2
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 2
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv 3
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1085307051
MEF2C-AS1 ; MEF2C
0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs1105879
UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 2
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5