Disease: Brachydactyly
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4