Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
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
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs374608214
FGFR2
0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 13
rs1884302 0.851 0.120 20 7125642 intron variant T/C snv 0.41 4
rs10262453
BBS9
0.925 0.080 7 33216427 intron variant A/C snv 0.27 2