Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
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
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
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
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv 6
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
rs3735520
HGF
0.851 0.040 7 81771623 upstream gene variant G/A;T snv 4
rs10824518
KCNMA1
0.882 0.040 10 77303784 intron variant T/A;C snv 3
rs11073058 1.000 0.040 15 34697425 regulatory region variant G/A;T snv 3
rs17175798
ANKRD34C-AS1
0.925 0.040 15 79171618 intron variant C/A;T snv 3
rs28933687
RP2
0.882 0.080 X 46853726 missense variant G/A;T snv 3
rs587777069
SLITRK6
0.882 0.160 13 85795269 stop gained G/A;T snv 1.2E-05; 4.0E-06 3
rs644242
PAX6
0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 3
rs6885224
CTNND2
0.882 0.040 5 11169833 intron variant C/A;T snv 3
rs730882261
RPGR
0.882 0.080 X 38286572 frameshift variant CT/- delins 3
rs1644731
RDH8
0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 2
rs199624584
SLC39A5
0.925 0.040 12 56231415 stop gained C/A;G;T snv 2.4E-05; 4.0E-06; 1.6E-05; 2.4E-05 2