Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782736894
rs782736894
BPTF
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs312262690
rs312262690
ANTXR2
AG 0.700 CausalMutation CLINVAR

dbSNP: rs387906846
rs387906846
ARID1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs879253745
rs879253745
ARID1B
G 0.700 CausalMutation CLINVAR

dbSNP: rs879253746
rs879253746
ARID1B
GT 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253856
rs879253856
ARID1B
TCCGCAGCCACTCC 0.700 CausalMutation CLINVAR