Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518898
DYNC2H1
11 103256241 splice donor variant G/A;C snv 4.4E-06 3
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv 10
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv 10
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14