Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 11
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs11196205
TCF7L2
0.827 0.200 10 113047288 intron variant G/A;C;T snv 7
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1160535157
LAMP2
X 120449056 stop gained G/C snv 1
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs12155400
HDAC9
7 18389298 intron variant A/G snv 2.9E-02 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 5
rs1249719
COL27A1
1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 2
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1282382243
DLEU7-AS1 ; DLEU1 ; DLEU7
0.807 0.120 13 50843630 missense variant G/A snv 8
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 11
rs137853298
SYN3 ; TIMP3
0.925 0.080 22 32859351 missense variant A/T snv 3
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs14259
PSMD9
0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs16139
NPY ; LOC107986777
0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1800592 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 8
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131