Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767216159
rs767216159
BMP4
0.010 GeneticVariation BEFREE Here, we present a patient with renal dysplasia carrying homozygous missense mutations in both BMP4 (p.N150K) and DACH1 (p.R684C). 23262432

2013
dbSNP: rs185077999
rs185077999
ZFPM2 ; ZFPM2-AS1
0.010 GeneticVariation BEFREE A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. 19723756

2009
dbSNP: rs768314738
rs768314738
ZNF711
0.010 GeneticVariation BEFREE A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. 19723756

2009