Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 6
rs1563945076
APTX
0.925 0.160 9 32974556 frameshift variant A/- del 4
rs1164174661
CACNA1A
0.925 0.120 19 13283358 missense variant T/C snv 3