Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del 7
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv 5
rs28935469
FLNA
0.882 0.280 X 154367844 missense variant G/A snv 4
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv 4
rs369867819
LOC107984360 ; LRRC32
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 3
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs1554985320
PAX6
0.925 0.240 11 31801619 stop gained C/T snv 3