Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2154319 1 41280098 intron variant T/C snv 0.15 2
rs2421992
DNM3
1 172272111 intron variant C/T snv 0.62 2
rs425277
PRKCZ
1 2137733 intron variant C/T snv 0.23 2
rs4338381
COL11A1
1.000 0.040 1 103107371 intron variant A/C;G snv 2
rs4601530 1 24717620 downstream gene variant C/T snv 0.31 2
rs6662509
H6PD
1 9257545 intron variant C/T snv 0.17 2
rs6686842
SCMH1
1 41065199 intron variant T/C snv 0.65 2
rs6699417
PKN2-AS1
1 88657760 intron variant C/T snv 0.61 2
rs678962
DNM3
1 172220749 intron variant T/G snv 0.24 2
rs7532866
LIN28A
1 26415053 intron variant A/G snv 0.36 2
rs7552186 1 218821931 intergenic variant C/T snv 0.40 2
rs9428104 1 118312964 intergenic variant A/G;T snv 2
rs1129923
LOC101928264 ; DUSP23
1 159782276 missense variant G/A;T snv 8.5E-02; 4.0E-06 1
rs2046159
COL24A1
1 85864906 intron variant A/G snv 0.13 1
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs3791679
EFEMP1 ; LOC112268416
0.925 0.120 2 55869757 intron variant A/G snv 0.20 11
rs11891311
UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A9 ; UGT1A10 ; UGT1A4 ; UGT1A6 ; UGT1A7
2 233730664 intron variant G/A snv 0.42 4
rs3791675
EFEMP1
1.000 0.040 2 55884174 intron variant C/T snv 0.20 4
rs6733301
EFR3B
0.925 0.080 2 25053415 intron variant G/A snv 0.13 4
rs17511102
LOC105374465 ; CDC42EP3
2 37733470 intron variant A/G;T snv 3
rs867529
EIF2AK3
1.000 0.080 2 88613755 missense variant G/C snv 0.30 0.23 3
rs10187066
ZNF142
2 218650036 intron variant A/G snv 0.45 2
rs1052483 2 219069626 non coding transcript exon variant G/T snv 0.13 2
rs11684404
EIF2AK3
2 88625104 intron variant T/C snv 0.28 2