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
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
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: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 1.000 1 2019 2019
dbSNP: rs779027563
rs779027563
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: rs1057518957
rs1057518957
1.000 0.040 2 232535143 missense variant G/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1057518958
rs1057518958
1.000 0.040 2 232531353 frameshift variant T/- del
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1060499549
rs1060499549
0.882 0.120 9 106927699 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1060503383
rs1060503383
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs118192177
rs118192177
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
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
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs121918459
rs121918459
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
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
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs140614802
rs140614802
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
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
0.851 0.120 7 19116970 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1554642022
rs1554642022
0.851 0.200 8 143816981 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1554700718
rs1554700718
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1554768245
rs1554768245
0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1555247672
rs1555247672
0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1555429629
rs1555429629
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1555741826
rs1555741826
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs1559931177
rs1559931177
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0