rs267607077, SNRNP200

N. diseases: 4
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.720 GeneticVariation BEFREE Taken together, our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the RP-linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function. 24302620 2014
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.720 GeneticVariation BEFREE The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls. 19878916 2009
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.720 GeneticVariation CLINVAR The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls. 19878916 2009