Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334099693
rs1334099693
A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019

dbSNP: rs1559155954
rs1559155954
CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

dbSNP: rs1567368243
rs1567368243
GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

dbSNP: rs1554297905
rs1554297905
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018

dbSNP: rs1057519389
rs1057519389
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1060499548
rs1060499548
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: rs1425998598
rs1425998598
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs1554333853
rs1554333853
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

dbSNP: rs786200952
rs786200952
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015

dbSNP: rs1057516030
rs1057516030
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795559
rs1064795559
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553544133
rs1553544133
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554121443
rs1554121443
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555038111
rs1555038111
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555174708
rs1555174708
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555380716
rs1555380716
GC 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556009247
rs1556009247
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560092224
rs1560092224
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561964103
rs1561964103
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
C 0.700 GeneticVariation CLINVAR