Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
0.710 GeneticVariation BEFREE We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. 30976112

2019
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
A 0.710 GeneticVariation CLINVAR