Disease: Blepharoptosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13