Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis. 20147377

2010
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis. 20147377

2010
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors. 19812316

2009
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors. 19812316

2009
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes. 14738874

2004
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes. 14738874

2004
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR COUP-TFI: an intrinsic factor for early regionalization of the neocortex. 11511537

2001
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR COUP-TFI: an intrinsic factor for early regionalization of the neocortex. 11511537

2001
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons. 10624948

1999
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons. 10624948

1999
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554074850
rs1554074850
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554075105
rs1554075105
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863224903
rs863224903
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.700 GeneticVariation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016