Disease: Blepharoptosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27