Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs529855742
rs529855742
SGSH
A 0.700 CausalMutation CLINVAR

dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs773685207
rs773685207
MED13
A 0.700 CausalMutation CLINVAR

dbSNP: rs281864996
rs281864996
GNPTAB
ATTTTC 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401778
rs1135401778
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555939456
rs1555939456
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562171209
rs1562171209
PHIP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs755246809
rs755246809
AHI1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
G 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554944271
rs1554944271
DEAF1
G 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: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs776969714
rs776969714
SEPSECS
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
T 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: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507562
rs397507562
GNPTAB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
T 0.700 CausalMutation CLINVAR