Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs372949028
rs372949028
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs376754460
rs376754460
PMM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs397514582
rs397514582
KCNQ2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045

2016
dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509

2014
dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs587784347
rs587784347
PLA2G6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs724159992
rs724159992
ABAT
A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs72555360
rs72555360
GLB1
A 0.700 CausalMutation CLINVAR

dbSNP: rs750371878
rs750371878
HACE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs755604487
rs755604487
PHIP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs759317757
rs759317757
OTUD6B
A 0.700 CausalMutation CLINVAR

dbSNP: rs763028380
rs763028380
ABCC8
A 0.700 GeneticVariation CLINVAR