SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356461
rs80356461
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		0.800 GeneticVariation UNIPROT Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007
dbSNP: rs80356462
rs80356462
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		0.800 GeneticVariation UNIPROT Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007
dbSNP: rs80356463
rs80356463
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		0.800 GeneticVariation UNIPROT Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007
dbSNP: rs80356461
rs80356461
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80356462
rs80356462
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80356463
rs80356463
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80356464
rs80356464
Entrez Id: 147912;109729182
Gene Symbol: SIX5;DM1-AS
SIX5;DM1-AS
CUI: C1970479
Disease:
Branchiootorenal Syndrome 2 		0.700 GeneticVariation UNIPROT Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007