Disease: May-Hegglin anomaly
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338826
MYH9
0.827 0.320 22 36305985 missense variant G/A snv 6
rs80338831
MYH9
0.882 0.320 22 36292060 missense variant C/A;G;T snv 4