Disease: Hereditary spherocytosis
Source: ALL
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-02 262
rs121912748
SLC4A1
0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 9
rs137853583
GPI
0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06 5
rs2230294
GPI
0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04 4