Disease: Massive Osteolyses
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799883
FABP2
0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 29
rs3808607
CYP7A1
0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 16
rs4148217
ABCG8
0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 11
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 8
rs2081687 0.882 0.240 8 58476006 intergenic variant T/C snv 0.70 6
rs12882491
TRAF3
0.925 0.160 14 102816936 intron variant C/T snv 0.51 3
rs3758650
CDHR5 ; IRF7
0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02 3
rs80356489
SLC37A4
0.882 0.200 11 119028223 missense variant A/G snv 7.0E-06 3
rs2740375
CDHR5
0.925 0.160 11 618998 missense variant G/A;C;T snv 0.54; 4.0E-06 2
rs7932167
CDHR5
0.925 0.160 11 620599 intron variant G/T snv 0.73 2