Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2145272 20 6645571 intergenic variant G/A;T snv 8
rs11082304
CABLES1
18 23141009 intron variant G/C;T snv 6
rs1812175
HHIP-AS1 ; HHIP
4 144653692 intron variant A/G snv 0.79 6
rs2284746
MFAP2
1 16980180 intron variant C/A;G snv 6
rs806794
H2AC7 ; H3C4 ; H2BC7
6 26200449 3 prime UTR variant A/G snv 0.36 6
rs9292468 5 32818967 intergenic variant T/A;C snv 6
rs1351394
HMGA2
12 65958046 3 prime UTR variant T/C;G snv 5
rs2274432
TSEN15
1 184051811 missense variant G/A snv 0.33 0.28 5
rs2282978
LOC112268009 ; CDK6
7 92635096 intron variant T/C snv 0.38 5
rs4896582
ADGRG6
6 142382740 intron variant G/A snv 0.50 5
rs1173727 5 32830415 intergenic variant T/C snv 0.66 4
rs11891311
UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A9 ; UGT1A10 ; UGT1A4 ; UGT1A6 ; UGT1A7
2 233730664 intron variant G/A snv 0.42 4
rs12198986 6 7719826 regulatory region variant G/A snv 0.37 4
rs1344674
ZBTB38
3 141406344 intron variant A/G snv 0.55 4
rs1490384 6 126530014 intron variant C/G;T snv 4
rs1776897 6 34227234 regulatory region variant G/T snv 0.80 4
rs1885486
LOC105374906
6 7695740 intergenic variant G/A snv 0.40 4
rs1991431
ZBTB38
3 141414608 intron variant G/A snv 0.50 4
rs2145270 20 6641038 regulatory region variant C/T snv 0.61 4
rs2638953
CCDC91
12 28381482 intron variant G/C;T snv 4
rs3748069
ADGRG6
6 142446496 downstream gene variant A/G snv 0.39 4
rs3760318
ADAP2
17 30920697 intron variant G/A snv 0.39 4
rs473902
PTCH1
9 95493953 intron variant T/G snv 5.7E-02 4
rs4800148
CABLES1
18 23144364 intron variant G/A;C snv 4
rs6440003
ZBTB38
3 141375367 intron variant G/A snv 0.54 4