Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1160535157
LAMP2
X 120449056 stop gained G/C snv 1
rs735286
VEGFA
6 43776884 non coding transcript exon variant C/T snv 0.23 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs375090109
PRPH2
6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05 1
rs763544450
ERG
1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 4
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 8
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs771676129
CD36
0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 7
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs774038422
ERG
1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 2
rs16139
NPY ; LOC107986777
0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs14259
PSMD9
0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs773223321
MMRN1
4 89935190 missense variant G/A snv 1.6E-05 1
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 7
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 5
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 10
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
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
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131