Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77078070
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1555429629
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs863224880
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs886041094
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2013 2013
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2006 2006
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2006 2006
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 1 2017 2017
dbSNP: rs1554442015
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs200473652
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1057518957
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 1 2019 2019
dbSNP: rs886041125
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1057518958
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0