Gene: TULP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909076
rs121909076
TULP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554125752
rs1554125752
TULP1
CG 0.700 GeneticVariation CLINVAR

dbSNP: rs527236117
rs527236117
TULP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1237263305
rs1237263305
TULP1
0.010 GeneticVariation BEFREE Analysis of variants in the exome sequence data revealed a novel homozygous nonsense mutation (c.1081C > T, p.Arg361*) in TULP1, a gene with roles in photoreceptor function where mutations were previously shown to cause LCA and retinitis pigmentosa. 24547928

2015