Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 7
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 5
rs60310264
LMNA
0.827 0.200 1 156130693 missense variant G/A snv 5
rs180177456
NLRP3
0.925 0.160 1 247424426 missense variant G/A snv 2
rs151241066
IARS2
1.000 0.120 1 220143003 missense variant G/A snv 2.0E-05 3.5E-05 1
rs577492
LMNA
1.000 0.120 1 156130948 intron variant T/C snv 0.22 1
rs536639583
HOXD13
0.882 0.160 2 176092922 missense variant G/C snv 1.9E-04 6.7E-04 4
rs587779348
CRIPT
0.882 0.160 2 46623765 frameshift variant T/- delins 3
rs587779356
CRIPT
0.882 0.160 2 46619676 frameshift variant -/GG delins 3
rs770627276
SOS1
1.000 0.120 2 39120412 missense variant T/C snv 2
rs780108348
NBAS
1.000 0.120 2 15402229 stop gained G/A snv 1.2E-05 4.2E-05 1
rs121909173
HESX1
0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 5
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs121917883
GHSR
0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 4
rs397514487
POC1A
0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 3
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 10
rs1211533350
FGFR3
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 5
rs17881656
FGFR3
0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 3
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv 2
rs80053154
FGFR3
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 2
rs1448843898
FGFR3
1.000 0.120 4 1805608 missense variant G/A;T snv 4.0E-06; 4.0E-06 1