Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559470315
rs1559470315
CTNNB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137852220
rs137852220
NDP ; NDP-AS1
0.010 GeneticVariation BEFREE We report the cosegregation of an arginine to leucine substitution at position 121 of the Norrie disease protein in a large kindred where exudative vitreoretinopathy segregates as an X-linked recessive trait. 8946107

1996