CHN1, chimerin 1, 1123

N. diseases: 112; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912792
rs121912792
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912793
rs121912793
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912794
rs121912794
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912795
rs121912795
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912796
rs121912796
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912797
rs121912797
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912798
rs121912798
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912792
rs121912792
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912793
rs121912793
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912794
rs121912794
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121912795
rs121912795
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912796
rs121912796
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912797
rs121912797
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912798
rs121912798
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1205151
rs1205151
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs188245701
rs188245701
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0016529
Disease:
Forced expiratory volume function 		T 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs1553475005
rs1553475005
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553475005
rs1553475005
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C1846464
Disease:
Globe retraction and deviation on adduction 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553475005
rs1553475005
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0011168
Disease:
Deglutition Disorders 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553475005
rs1553475005
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0541794
Disease:
Skeletal muscle atrophy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1558939623
rs1558939623
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0011981
Disease:
Diaphragmatic Eventration 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1558939623
rs1558939623
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0521620
Disease:
Dilatation of ureter 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1558939623
rs1558939623
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0025990
Disease:
Micrognathism 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1558939623
rs1558939623
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C4021789
Disease:
Abnormality of the vertebral column 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1558939623
rs1558939623
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0010964
Disease:
Dandy-Walker Syndrome 		T 0.700 GeneticVariation CLINVAR