Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs522616
MMP3
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 10
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv 10
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 8
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv 7
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv 7
rs4752028
SHTN1
0.807 0.200 10 117075480 intron variant C/T snv 0.73 6
rs4783099
CRISPLD2
0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 6
rs10130587
BMP4
0.851 0.200 14 53952392 intron variant G/C snv 0.45 5
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs11466285
TGFA
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 5
rs13041247
LOC102724968
0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 5