rs1205151
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Hair Color
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
rs121912792
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912792
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912793
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912793
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912793
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
|
19541263 |
2009 |
rs121912794
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912794
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912795
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912795
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912796
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912796
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912797
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912797
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912798
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
18653847 |
2008 |
rs121912798
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1553475005
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Duane Retraction Syndrome, Type 2
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553475005
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Globe retraction and deviation on adduction
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553475005
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Deglutition Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553475005
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Skeletal muscle atrophy
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1558939623
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Diaphragmatic Eventration
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1558939623
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Dilatation of ureter
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1558939623
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Micrognathism
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1558939623
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Abnormality of the vertebral column
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1558939623
|
Entrez Id: |
1123 |
Gene Symbol: |
CHN1 |
CHN1
|
Dandy-Walker Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|