Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1425998598
rs1425998598
BPTF
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: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
A 0.700 CausalMutation CLINVAR

dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs771237928
rs771237928
NOTCH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727931
rs794727931
ALG8
C 0.700 CausalMutation CLINVAR

dbSNP: rs797044849
rs797044849
GRIN2B
G 0.700 GeneticVariation CLINVAR