Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554768245
rs1554768245
SYNE1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555247672
rs1555247672
MED13L
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		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: rs1569146993
rs1569146993
TCF20
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		AC 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs200473652
rs200473652
UNC80
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs201217593
rs201217593
DMD
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607261
rs267607261
MPV17
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368900406
rs368900406
MPV17
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517154
rs397517154
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587776917
rs587776917
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs727503109
rs727503109
KRAS
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs758361736
rs758361736
KIF7
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR