Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12483205
rs12483205
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17193211
rs17193211
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17193211
rs17193211
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1305855
Disease:
Body mass index
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs17814633
rs17814633
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2835731
rs2835731
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2835750
rs2835750
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2835750
rs2835750
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs724159948
rs724159948
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
T 0.700 CausalMutation CLINVAR Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 29034068 2017
dbSNP: rs724159948
rs724159948
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs724159953
rs724159953
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs780441716
rs780441716
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047 2017
dbSNP: rs1057518204
rs1057518204
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1057518204
rs1057518204
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984064
rs1555984064
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
T 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984102
rs1555984102
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984102
rs1555984102
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555984461
rs1555984461
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
G 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555984461
rs1555984461
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
G 0.700 CausalMutation CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features
TA 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features
TA 0.700 CausalMutation CLINVAR Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555985642
rs1555985642
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016