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: rs10911193
rs10911193
LAMC1
1.000 0.040 1 183021513 upstream gene variant C/T snv 0.11
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 < 0.001 1 2012 2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0033377
Disease: Ptosis
Ptosis 		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: C0033377
Disease: Ptosis
Ptosis 		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: C0033377
Disease: Ptosis
Ptosis 		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: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2017 2017
dbSNP: rs1555669248
rs1555669248
TUBB6
0.807 0.280 18 12325970 missense variant T/C snv
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2015 2015
dbSNP: rs3918253
rs3918253
MMP9
0.925 0.080 20 46010872 intron variant C/T snv 0.43 0.44
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2012 2012
dbSNP: rs3918256
rs3918256
MMP9
1.000 0.040 20 46012320 splice region variant G/A snv 0.43 0.44
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2012 2012
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2013 2013
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2006 2006
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0033377
Disease: Ptosis
Ptosis 		0.010 1.000 1 2006 2006