Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906646
rs387906646
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

dbSNP: rs387906646
rs387906646
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011

dbSNP: rs387906647
rs387906647
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

dbSNP: rs387906647
rs387906647
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011

dbSNP: rs387906648
rs387906648
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

dbSNP: rs387906648
rs387906648
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011

dbSNP: rs750559316
rs750559316
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011

dbSNP: rs750559316
rs750559316
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

dbSNP: rs754916169
rs754916169
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

dbSNP: rs754916169
rs754916169
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011