Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs522616
MMP3
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 10
rs765462548
STN1
0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05 3
rs1057519583
STN1
0.882 0.160 10 103900115 missense variant C/G snv 3
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs11624283 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 3
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs197204
MCUB
0.851 0.200 4 109576918 intron variant C/G snv 0.52 4
rs4752028
SHTN1
0.807 0.200 10 117075480 intron variant C/T snv 0.73 6
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv 7
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs2237138
JARID2
0.882 0.200 6 15463164 intron variant T/C snv 0.22 3
rs2076056
JARID2
0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 3
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs227493 0.882 0.200 6 165071698 intron variant A/T snv 1.7E-02 3
rs6757845
ZNF385B
0.851 0.200 2 179449268 intron variant T/C snv 0.66 4
rs1139
ZNF385B
0.851 0.200 2 179745354 intron variant C/T snv 0.22 4
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv 10
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs2235375
IRF6
0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 7