RCVRN, recoverin, 5957

N. diseases: 19; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150466624
rs150466624
Entrez Id: 5957
Gene Symbol: RCVRN
RCVRN
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Four sequence variants were discovered.The first was a missense change (Ala200Thr) found in one family with autosomal dominant RP and in one family with autosomal recessive RP; it did not segregate with disease. 9071225 1997