Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs146052672
HMGA1
0.851 0.160 6 34242693 intron variant -/C delins 5
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs1353342
PCSK5
0.925 0.080 9 76259853 intron variant A/C snv 0.79 2
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1271572
ESR2
0.708 0.400 14 64295199 intron variant A/C;T snv 16
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs2569190
CD14 ; TMCO6
0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs10455872
LPA
0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 33
rs2383207
CDKN2B-AS1
0.695 0.280 9 22115960 intron variant A/G snv 0.64 22
rs1051931
PLA2G7
0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 19
rs4636297
EGFL7 ; MIR126
0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 14
rs1187513719
CYP2C19
0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 4
rs1049194905
SCN5A
0.925 0.080 3 38604063 synonymous variant A/G snv 2
rs12095080
DIO1
1.000 0.080 1 53911057 3 prime UTR variant A/G snv 0.12 2
rs1201493098
GP1BA ; CHRNE
1.000 0.080 17 4934295 missense variant A/G snv 4.0E-06 1.4E-05 1
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 13
rs11571836
BRCA2
0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 6
rs974453
SLCO1C1
1.000 0.080 12 20737008 intron variant A/G;T snv 3
rs1237080661
SCN5A
0.925 0.080 3 38604780 stop gained A/G;T snv 2.8E-05 2
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs199473244
SCN5A
0.851 0.120 3 38557251 missense variant C/A snv 4
rs200034939
SCN5A
0.882 0.080 3 38557248 missense variant C/A snv 3.2E-05 3