Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.010 GeneticVariation BEFREE Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008
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
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: rs140291094
rs140291094
STAC3
0.010 GeneticVariation BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491

2017
dbSNP: rs1555669248
rs1555669248
TUBB6
0.010 GeneticVariation BEFREE The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis. 29016863

2017
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
0.010 GeneticVariation BEFREE Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. 24018892

2013
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: rs121913528
rs121913528
KRAS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
A 0.700 CausalMutation CLINVAR

dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555247672
rs1555247672
MED13L
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
A 0.700 CausalMutation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224880
rs863224880
IGHMBP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041094
rs886041094
UNC80
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569146993
rs1569146993
TCF20
AC 0.700 CausalMutation CLINVAR

dbSNP: rs137852813
rs137852813
SOS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554442015
rs1554442015
TWIST1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR