Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs6214
LINC02456 ; HELLPAR ; IGF1
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs4803455
TGFB1
0.752 0.280 19 41345604 intron variant C/A snv 0.51 11
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1557551678
CLDN19
0.882 0.160 1 42738421 missense variant C/A snv 9
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs2946834
LINC02456 ; HELLPAR
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 7
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv 6
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 6
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 6
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 5
rs13095226
COL8A1
0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 5
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43 5
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv 4
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21 4
rs17648524
RBFOX1
0.882 0.040 16 7409682 intron variant G/C snv 0.29 4
rs3735520
HGF
0.851 0.040 7 81771623 upstream gene variant G/A;T snv 4
rs4373767 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 4
rs5742632
LINC02456 ; IGF1
0.851 0.120 12 102462696 intron variant A/G snv 0.26 4
rs7084402 0.925 0.040 10 58505644 intergenic variant A/G snv 0.51 4