Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 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
rs3782886
BRAP
0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 11
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs387906918
CDT1
0.925 0.120 16 88804027 missense variant G/A snv 7.0E-06 1
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C 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
rs137853221
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63917803 missense variant T/C snv 1
rs587777614
DNA2
0.882 0.160 10 68416703 frameshift variant G/- delins 3
rs1566902569
FBN1
0.882 0.160 15 48460299 missense variant C/A snv 9
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv 6
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 3
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
rs121909362
GHR
0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 1
rs886037910
GHR
0.925 0.160 5 42699943 missense variant T/C snv 1
rs121917883
GHSR
0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 2
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs759838407
LIG4
0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 3