Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 17
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 15
rs1554927408
FGFR2
0.742 0.480 10 121515254 missense variant C/T snv 12
rs1057519044
FGFR2
0.752 0.440 10 121517390 missense variant C/T snv 11
rs1434545235
FGFR2
0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 11
rs121918497
FGFR2
0.776 0.160 10 121520052 missense variant T/G snv 8
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs974173968
FGFR2
0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 3
rs104894055
TWIST1
0.925 0.080 7 19117240 stop gained G/A snv 2
rs1085307555
TWIST1
0.925 0.080 7 19116993 missense variant C/G;T snv 2
rs121909188
TWIST1
0.925 0.080 7 19116946 stop gained C/A snv 2
rs1554441991
TWIST1
0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins 2
rs1554441993
TWIST1
0.925 0.080 7 19116913 frameshift variant -/G delins 2
rs1554441995
TWIST1
0.925 0.080 7 19116927 missense variant C/G snv 2
rs1554442019
TWIST1
0.925 0.080 7 19116976 missense variant G/C snv 2
rs1554442082
TWIST1
0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 2
rs1563159980
TWIST1
0.925 0.080 7 19116903 stop gained -/AGGGCAGCGTGGGGATGATCT delins 2
rs1563160116
TWIST1
0.925 0.080 7 19117021 stop gained G/A snv 2
rs1563160337
TWIST1
0.925 0.080 7 19117211 frameshift variant CGTCCCCCGCGCTTGCCGCTCG/- delins 2
rs562297920
FGFR2
1.000 0.080 10 121515192 synonymous variant G/A;C snv 4.0E-06; 4.0E-06 1
rs879253718
FGFR2
1.000 0.080 10 121520109 inframe deletion ACCACT/- del 1