Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777737
rs587777737
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
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
dbSNP: rs587777738
rs587777738
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
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
dbSNP: rs587777737
rs587777737
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777738
rs587777738
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs10955269
rs10955269
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1554579819
rs1554579819
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C0010036
Disease:
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
dbSNP: rs1554579832
rs1554579832
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C0010036
Disease:
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
dbSNP: rs1554579878
rs1554579878
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C0010036
Disease:
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
dbSNP: rs1554579819
rs1554579819
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C4747961
Disease:
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554579878
rs1554579878
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C4747961
Disease:
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122997
rs398122997
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C1837640
Disease:
Deafness, Autosomal Dominant 28 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs398123006
rs398123006
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C1837640
Disease:
Deafness, Autosomal Dominant 28 		A 0.700 CausalMutation CLINVAR
dbSNP: rs10955255
rs10955255
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4275242
Disease:
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
dbSNP: rs611419
rs611419
Entrez Id: 79977;107986961;107986962
Gene Symbol: GRHL2;LOC107986961;LOC107986962
GRHL2;LOC107986961;LOC107986962
CUI: C4275242
Disease:
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
dbSNP: rs6989650
rs6989650
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4275242
Disease:
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