Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 15
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs1566902569
FBN1
0.882 0.160 15 48460299 missense variant C/A snv 9
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv 6
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
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 3
rs397514487
POC1A
0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 3
rs397515453
PIK3R1
0.752 0.440 5 68296301 missense variant C/T snv 3
rs587777614
DNA2
0.882 0.160 10 68416703 frameshift variant G/- delins 3
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
rs759838407
LIG4
0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 3
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C snv 2
rs397514461
SHOX
0.827 0.200 Y 640842 missense variant G/C snv 2
rs60310264
LMNA
0.827 0.200 1 156130693 missense variant G/A snv 2
rs111033552
NT5DC1 ; COL10A1
0.925 0.120 6 116120105 missense variant A/G snv 1
rs137853092
WNK4
0.851 0.240 17 42787494 missense variant C/G snv 1
rs137853221
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63917803 missense variant T/C snv 1
rs137853222
LOC112268204 ; GH1 ; CSHL1
0.925 0.160 17 63918072 missense variant C/A;G snv 1