Source: ALL
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 48
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
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs397515453
PIK3R1
0.752 0.440 5 68296301 missense variant C/T snv 11
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 8
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs137853092
WNK4
0.851 0.240 17 42787494 missense variant C/G snv 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
rs2076739
TG
0.827 0.200 8 132971804 missense variant T/A snv 5
rs397514461
SHOX
0.827 0.200 Y 640842 missense variant G/C snv 5
rs60310264
LMNA
0.827 0.200 1 156130693 missense variant G/A snv 5
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C snv 4
rs137853223
LOC112268204 ; CSHL1 ; GH1
0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 4
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 4
rs397514487
POC1A
0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 3
rs557914261
BLVRB
0.925 0.160 19 40458393 missense variant G/A snv 2.8E-05 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