Disease: Mucocutaneous Lymph Node Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs2227981
LOC105373977 ; PDCD1
0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 12