Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

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: rs1553632357
rs1553632357
CTNNB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR

dbSNP: rs757511770
rs757511770
FMN2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338758
rs80338758
MED12
T 0.700 CausalMutation CLINVAR

dbSNP: rs774679542
rs774679542
EBF2
0.010 GeneticVariation BEFREE We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). 29704291

2018