Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 100
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 8
rs2084202
C2orf76 ; DBI
1.000 0.080 2 119367453 missense variant A/G;T snv 0.84; 1.5E-05 1
rs707555
PCK1
1.000 0.080 20 57562839 missense variant G/C;T snv 0.84 1
rs2970847
PPARGC1A
0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 3
rs2057482
HIF1A-AS2 ; HIF1A-AS3 ; HIF1A
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs767870
ADIPOR2
0.882 0.120 12 1780657 intron variant G/A;C snv 0.82 4
rs6414624
EVC
1.000 0.080 4 5741785 missense variant T/C snv 0.80; 8.0E-06 0.72 1
rs1800972
DEFB1
0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 16
rs560887
SPC25 ; G6PC2
0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 8
rs516946
ANK1 ; MIR486-1
1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 1
rs515071
ANK1 ; MIR486-1
1.000 0.080 8 41661944 splice region variant A/G;T snv 0.78 1
rs1071592
AHSG
1.000 0.080 3 186620636 synonymous variant A/C snv 0.76 0.77 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1926447
CPB2 ; CPB2-AS1
0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 10
rs712701
PAX4
1.000 0.080 7 127611134 missense variant T/G snv 0.73 0.75 1
rs689
INS ; INS-IGF2
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 8
rs1788799
NPC1
1.000 0.080 18 23544981 missense variant C/A;G;T snv 4.2E-06; 0.73 1
rs1799883
FABP2
0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs2306617
ALDH7A1
1.000 0.080 5 126551993 intron variant C/G;T snv 0.71 1
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs2230808
ABCA1
0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 6
rs11076161
MT1A
1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 2
rs1801262
NEUROD1 ; CERKL
0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 4
rs4673
CYBA
0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32