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
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4