Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv 8
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv 7
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv 5
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 4
rs121907925
PAX6
0.882 0.080 11 31793795 missense variant A/G snv 3
rs1329285216
FFAR4 ; RBP4
0.925 0.080 10 93593997 missense variant A/T snv 2
rs746066696
IPO13
0.925 0.080 1 43949663 missense variant C/T snv 8.0E-06 7.0E-06 2
rs587777514
LRBA ; MAB21L2
0.925 0.080 4 150583769 missense variant G/A;T snv 4.0E-06 2
rs587777513
MAB21L2 ; LRBA
0.925 0.080 4 150583174 missense variant G/A snv 2
rs786205678
RARA
0.925 0.080 17 40354320 missense variant C/T snv 2
rs552445199
TMX3
0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 2
rs587777249
YAP1
0.925 0.080 11 102114192 stop gained C/T snv 2
rs587777250
YAP1
0.925 0.080 11 102223655 stop gained G/T snv 2
rs766630697
SOX2 ; SOX2-OT
1.000 0.080 3 181713055 missense variant C/A snv 1.6E-05 1