Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516230
ALPL
0.925 0.080 1 21554124 frameshift variant AACT/- delins 2
rs751994699
ALPL
1.000 0.040 1 21563170 frameshift variant GG/- delins 4.0E-06 2.1E-05 1
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv 5
rs869312694
MAGEL2
0.925 0.120 15 23644535 stop gained C/A snv 3
rs749621890
EXTL3
0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 7
rs1209546147
COL2A1 ; LOC105369752
1.000 0.040 12 47980597 missense variant C/T snv 1
rs886044555
COL2A1
0.925 0.080 12 47985772 missense variant C/T snv 3
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs369091875
DCHS1
0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 2
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs774568856
PGM3
0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 4
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1057518967
COL1A2
1.000 0.040 7 94423102 missense variant G/A snv 2