Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799895
SOD3
0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 1
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs1800206
PPARA
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 1
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3