Source: INFERRED ×
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 4
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 3
rs60310264
LMNA
0.827 0.200 1 156130693 missense variant G/A snv 2
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
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
rs397514487
POC1A
0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 3
rs121917883
GHSR
0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 2
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 15
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 4
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv 1
rs80053154
FGFR3
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 1
rs587779351
XRCC4
0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 6
rs397515453
PIK3R1
0.752 0.440 5 68296301 missense variant C/T snv 3
rs121909362
GHR
0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 1
rs121917843
PROP1
0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 1
rs886037910
GHR
0.925 0.160 5 42699943 missense variant T/C snv 1
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs111033552
NT5DC1 ; COL10A1
0.925 0.120 6 116120105 missense variant A/G snv 1
rs2076739
TG
0.827 0.200 8 132971804 missense variant T/A snv 1
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12