Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. 29276052

2018

dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. 25255364

2015

dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414

2015

dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. 24078709

2013

dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP. 21295282

2011

dbSNP: rs147394623
rs147394623
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
G 0.740 CausalMutation CLINVAR Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. 21295283

2011