Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0234146
Disease: Absent reflex
Absent reflex 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C1854882
Disease: Absent speech
Absent speech 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0009806
Disease: Constipation
Constipation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0009806
Disease: Constipation
Constipation 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0009806
Disease: Constipation
Constipation 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		A 0.700 GeneticVariation CLINVAR