Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312676
rs869312676
OPHN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312697
rs869312697
ARID1B
T 0.700 CausalMutation CLINVAR