Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs587779351
rs587779351
XRCC4
C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs56144125
rs56144125
TPP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853161
rs878853161
SLC2A1
G 0.700 CausalMutation CLINVAR