Disease: Metabolic Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs268
LPL
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 41
rs266729
ADIPOQ
0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs16139
NPY ; LOC107986777
0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs182052
ADIPOQ
0.701 0.440 3 186842993 intron variant G/A snv 0.38 19
rs328
LPL
0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02 19
rs2016520
PPARD
0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 16
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 15