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: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 5 2007 2011
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 4 2002 2009
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2008 2008
dbSNP: rs121912823
rs121912823
CHAT
0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2009 2009
dbSNP: rs140291094
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2017 2017
dbSNP: rs1555669248
rs1555669248
TUBB6
0.807 0.280 18 12325970 missense variant T/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2017 2017
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: 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: 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: rs1057518957
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1060499549
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs118192177
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121913378
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121913528
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
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
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: rs146539065
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554442015
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv
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