Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
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
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65 13
rs6921438 0.776 0.360 6 43957870 intergenic variant G/A;C snv 10
rs10738760 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 7
rs3825932
CTSH
0.827 0.360 15 78943104 intron variant T/C snv 0.50 6
rs3917779
SELP
0.925 0.280 1 169601610 intron variant G/A snv 0.22 2