Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1305542291
rs1305542291
SCAPER
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1239725461
rs1239725461
SCAPER
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1239725461
rs1239725461
SCAPER
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1239725461
rs1239725461
SCAPER
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1239725461
rs1239725461
SCAPER
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1305542291
rs1305542291
SCAPER
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1305542291
rs1305542291
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1395475624
rs1395475624
SCAPER
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1395475624
rs1395475624
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1395475624
rs1395475624
SCAPER
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555447569
rs1555447569
SCAPER
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
dbSNP: rs1555447569
rs1555447569
SCAPER
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
dbSNP: rs1555447569
rs1555447569
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
dbSNP: rs1555447569
rs1555447569
SCAPER
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555558169
rs1555558169
SCAPER
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
dbSNP: rs1555558169
rs1555558169
SCAPER
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C1843367
Disease: Poor school performance
Poor school performance 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C0028754
Disease: Obesity
Obesity 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs1567499068
rs1567499068
SCAPER
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019