Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7950273
PDGFD
0.925 0.120 11 104160870 intron variant C/G snv 0.32 1
rs28868104 1.000 0.080 3 104241993 intergenic variant C/T snv 0.17 2
rs530391015
INF2
0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 5
rs2569512
ILF3
0.925 0.080 19 10679486 intron variant T/C snv 0.76 1
rs880315
CASZ1
0.925 0.120 1 10736809 intron variant T/C snv 0.32 9
rs12046278
CASZ1
1 10739520 intron variant T/C snv 0.36 3
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs104886142
COL4A5
0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 4
rs218966
PHF14
7 10982603 missense variant A/G snv 0.64 0.68 1
rs1887320 20 10985350 intron variant G/A snv 0.46 6
rs1327235 20 10988382 intron variant A/G snv 0.46 6
rs9925481
CLEC16A
0.882 0.160 16 11003622 intron variant C/G;T snv 1
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs10033366
ENPEP
4 110409934 intron variant T/C snv 0.92 1
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18 8
rs10033464 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 1
rs3782889
MYL2
0.851 0.160 12 110912851 intron variant A/G snv 7.1E-02 3
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 14
rs2289277
TSLP
1.000 0.080 5 111073369 5 prime UTR variant C/A;G;T snv 1
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 4
rs7690819 1.000 0.040 4 111199502 intergenic variant A/G;T snv 3
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 23
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs3782886
BRAP
0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 11
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29