Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9585327 1.000 0.040 13 100037100 intergenic variant G/A snv 0.36 1
rs3760753
COL5A3 ; RDH8
1.000 0.040 19 10011783 upstream gene variant G/A;T snv 1
rs2233789
RDH8
0.925 0.040 19 10013026 upstream gene variant C/A;T snv 2
rs1644731
RDH8
0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 2
rs10860860
HELLPAR ; LINC02456
0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 2
rs2946834
LINC02456 ; HELLPAR
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 7
rs6214
LINC02456 ; HELLPAR ; IGF1
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs5742632
LINC02456 ; IGF1
0.851 0.120 12 102462696 intron variant A/G snv 0.26 4
rs5742629
LINC02456 ; IGF1
1.000 0.040 12 102463485 non coding transcript exon variant T/C snv 0.32 1
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 5
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs10488
MMP1 ; WTAPP1
1.000 0.040 11 102797291 synonymous variant C/G;T snv 4.0E-06; 5.7E-02 1
rs498186
WTAPP1 ; MMP1
0.925 0.080 11 102798914 intron variant A/C snv 0.40 2
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs71041628
GRIA4
1.000 0.040 11 105794433 intron variant GTGTGTGTGT/-;GTGT;GTGTGT;GTGTGTGT;GTGTGTGTGTGT delins 0.67 1
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs12716080
CTNND2
0.882 0.040 5 11166836 intron variant G/T snv 0.39 3
rs2218817 1.000 0.040 4 111689850 regulatory region variant G/A snv 0.32 1
rs10034228 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 3
rs6885224
CTNND2
0.882 0.040 5 11169833 intron variant C/A;T snv 3
rs1585471 1.000 0.040 4 111781479 regulatory region variant A/G snv 0.30 1
rs6837348 1.000 0.040 4 111787647 intergenic variant G/A snv 0.28 1