rs10955255
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Sudden sensorineural hearing loss
|
|
0.010 |
GeneticVariation |
BEFREE |
GRHL2 genetic polymorphisms, rs611419 and rs10955255, have a protective role against SSHL and reduce the risk of SSHL.
|
26847018 |
2016 |
rs611419
|
GRHL2;LOC107986961;LOC107986962
|
Sudden sensorineural hearing loss
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined genotypes of rs611419, rs10955255 and rs6989650 in the GRHL2 gene are also associated with a reduced risk of SSHL (P=0.035).
|
26847018 |
2016 |
rs6989650
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Sudden sensorineural hearing loss
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined genotypes of rs611419, rs10955255 and rs6989650 in the GRHL2 gene are also associated with a reduced risk of SSHL (P=0.035).
|
26847018 |
2016 |
rs10955269
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs587777737
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
|
25152456 |
2014 |
rs587777737
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777738
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
|
25152456 |
2014 |
rs587777738
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs398122997
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Deafness, Autosomal Dominant 28
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs398123006
|
Entrez Id: |
79977 |
Gene Symbol: |
GRHL2 |
GRHL2
|
Deafness, Autosomal Dominant 28
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554579819
|
GRHL2;LOC107986961;LOC107986962
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554579878
|
GRHL2;LOC107986961;LOC107986962
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554579819
|
GRHL2;LOC107986961;LOC107986962
|
Corneal dystrophy
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |
rs1554579832
|
GRHL2;LOC107986961;LOC107986962
|
Corneal dystrophy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |
rs1554579878
|
GRHL2;LOC107986961;LOC107986962
|
Corneal dystrophy
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |