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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs745738344
TNF
0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 28
rs659366
UCP2
0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 17
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs17611
C5
0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 14
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
rs6128
SELP
0.851 0.360 1 169593666 synonymous variant C/A;T snv 2.8E-05; 0.24 5
rs13207351
VEGFA
0.851 0.280 6 43770057 upstream gene variant A/G;T snv 4
rs12267418
MALRD1
0.882 0.280 10 19425625 intron variant G/A snv 0.18 3
rs16999051
PCSK2
0.882 0.280 20 17380837 intron variant C/T snv 0.13 3