GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: LEBER CONGENITAL AMAUROSIS 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs1401531865
rs1401531865
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs387906794
rs387906794
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs397514725
rs397514725
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1401531865
rs1401531865
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		R 0.800 CausalMutation CLINVAR
dbSNP: rs387906794
rs387906794
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514725
rs397514725
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		G 0.800 CausalMutation CLINVAR