Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041125
rs886041125
ANKRD11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913378
rs121913378
BRAF
G 0.700 CausalMutation CLINVAR

dbSNP: rs121912823
rs121912823
CHAT
0.010 GeneticVariation BEFREE The missense mutation I336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis. 19289695

2009
dbSNP: rs1057518957
rs1057518957
CHRND
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518958
rs1057518958
CHRND
G 0.700 GeneticVariation CLINVAR

dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs201217593
rs201217593
DMD
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587776917
rs587776917
ECEL1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
0.010 GeneticVariation BEFREE In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. 17189145

2006
dbSNP: rs79184941
rs79184941
FGFR2
0.010 GeneticVariation BEFREE In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. 17189145

2006
dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs863224880
rs863224880
IGHMBP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs758361736
rs758361736
KIF7
G 0.700 CausalMutation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913528
rs121913528
KRAS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727503109
rs727503109
KRAS
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555247672
rs1555247672
MED13L
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607261
rs267607261
MPV17
T 0.700 CausalMutation CLINVAR

dbSNP: rs368900406
rs368900406
MPV17
C 0.700 GeneticVariation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113994097
rs113994097
POLG
0.010 GeneticVariation BEFREE Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008