Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1060499551
ZNF462
1.000 0.080 9 106928174 frameshift variant A/- delins 1
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs121918501
FGFR2
0.807 0.080 10 121520050 missense variant A/C;G snv 6
rs2160203
IL1RL1 ; IL18R1
1.000 0.080 2 102344364 3 prime UTR variant A/C;G snv 2
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv 7
rs7528947
RGS21
1.000 0.080 1 192366662 3 prime UTR variant A/C;G;T snv 1
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs1350033384
SGSM3
1.000 0.080 22 40409697 missense variant A/G snv 4.0E-06 1
rs3810831
CD8A
1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20 1
rs42336 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 1
rs768918396
FGFR1
1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05 1
rs757744435
NPR2
1.000 0.080 9 35794009 missense variant A/G;T snv 4
rs1483757
NOS1
0.925 0.160 12 117323735 intron variant A/G;T snv 3
rs10204137
IL18R1 ; IL1RL1
0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 2
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 3
rs12188164
AHRR
1.000 0.080 5 428121 intron variant C/A snv 0.27 1
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25