Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 6
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 6
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 4