Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401769
rs1135401769
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1135401769
rs1135401769
WAC
CUI: C1843367
Disease: Poor school performance
Poor school performance 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554791124
rs1554791124
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554791943
rs1554791943
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		T 0.700 CausalMutation CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981

2016
dbSNP: rs1554791975
rs1554791975
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554792658
rs1554792658
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		A 0.700 CausalMutation CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981

2016
dbSNP: rs1564421528
rs1564421528
WAC
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C1854114
Disease: Short nose
Short nose 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0009806
Disease: Constipation
Constipation 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C1854882
Disease: Absent speech
Absent speech 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		T 0.700 CausalMutation CLINVAR

dbSNP: rs181666690
rs181666690
WAC
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138

2016
dbSNP: rs2790457
rs2790457
WAC
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682

2016
dbSNP: rs864321634
rs864321634
WAC
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		T 0.700 CausalMutation CLINVAR