DVL1, dishevelled segment polarity protein 1, 1855

N. diseases: 181; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs307359
rs307359
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs797044834
rs797044834
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		G 0.700 CausalMutation CLINVAR WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 29276006 2018
dbSNP: rs869025220
rs869025220
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		A 0.700 CausalMutation CLINVAR DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 26924530 2016
dbSNP: rs1553173425
rs1553173425
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs1553173425
rs1553173425
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 25817014 2015
dbSNP: rs797044833
rs797044833
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		G 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs797044834
rs797044834
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		G 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs797044835
rs797044835
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		C 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs797044836
rs797044836
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		C 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs797044837
rs797044837
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		C 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs797044838
rs797044838
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		A 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
dbSNP: rs1553173425
rs1553173425
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 17256787 2007
dbSNP: rs1553173367
rs1553173367
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553173368
rs1553173368
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553173372
rs1553173372
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		GCTGCC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553173420
rs1553173420
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs797044839
rs797044839
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797044840
rs797044840
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs61735963
rs61735963
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.010 GeneticVariation BEFREE No significant association was found between OA risk and polymorphisms (rs61735963, rs10795550 or rs1127379). 31560818 2019