Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779349
rs587779349
BRCA2
G 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs1251778848
rs1251778848
KMT2D
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205678
rs786205678
RARA
0.010 GeneticVariation BEFREE We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). 31343737

2019