Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555985642
rs1555985642
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs1555985642
rs1555985642
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0026827
Disease:
Muscle hypotonia 		A 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 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 26922654 2016
dbSNP: rs1555990751
rs1555990751
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
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: rs1555990751
rs1555990751
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
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: rs1555990751
rs1555990751
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
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: rs1555990751
rs1555990751
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
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: rs1555990816
rs1555990816
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		CT 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: rs1555990816
rs1555990816
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398 2016
dbSNP: rs797044520
rs797044520
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797044523
rs797044523
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
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: rs797044523
rs797044523
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
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: rs797045041
rs797045041
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		A 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045042
rs797045042
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3279839
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		AG 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1057518204
rs1057518204
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1057518204
rs1057518204
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555984102
rs1555984102
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555984102
rs1555984102
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555984304
rs1555984304
Entrez Id: 1859;105372797
Gene Symbol: DYRK1A;LOC105372797
DYRK1A;LOC105372797
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557 2015
dbSNP: rs1555985620
rs1555985620
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
dbSNP: rs1555985642
rs1555985642
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015