Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236083
rs527236083
MERTK
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs541717028
rs541717028
MERTK
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 CausalMutation CLINVAR MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. 15111602

2004
dbSNP: rs746238212
rs746238212
MERTK
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853354
rs878853354
MERTK
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 24625443

2014