Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs121913378
rs121913378
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518958
rs1057518958
CHRND
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518957
rs1057518957
CHRND
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation 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: rs201217593
rs201217593
DMD
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1554700718
rs1554700718
HNRNPK
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: rs863224880
rs863224880
IGHMBP2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 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

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

dbSNP: rs121913528
rs121913528
KRAS
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555247672
rs1555247672
MED13L
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 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: rs200661329
rs200661329
PIGQ
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: rs397507520
rs397507520
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR