Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 4
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv 4
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 2
rs587783672
KCNJ11
0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 2
rs137852671
ABCC8
0.790 0.160 11 17394295 missense variant C/T snv 1
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 1
rs121909244
PPARG
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 1
rs72551362
PPARG
0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06 1
rs1799999
PPP1R3A
0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 1
rs28936379
PSEN2
0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 1
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 1
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 1
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1