Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041094
rs886041094
UNC80
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs863224880
rs863224880
IGHMBP2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs779027563
rs779027563
CNTNAP1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs776969714
rs776969714
SEPSECS
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		GC 0.700 CausalMutation CLINVAR

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

dbSNP: rs1569146993
rs1569146993
TCF20
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		AC 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