Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs530109812
rs530109812
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.800 GeneticVariation UNIPROT Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 28173123 2016
dbSNP: rs770729222
rs770729222
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.800 GeneticVariation UNIPROT Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 28173123 2016
dbSNP: rs530109812
rs530109812
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs770729222
rs770729222
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs58267004
rs58267004
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs189441863
rs189441863
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0684249
Disease:
Carcinoma of lung 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of familial lung cancer. 29924316 2018
dbSNP: rs7296999
rs7296999
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0017612
Disease:
Glaucoma, Open-Angle 		0.700 GeneticVariation GWASDB Genome-wide association study of primary open angle glaucoma risk and quantitative traits. 22605921 2012
dbSNP: rs538068583
rs538068583
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0020758
Disease:
Congenital ichthyosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs760309815
rs760309815
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs764593071
rs764593071
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0020758
Disease:
Congenital ichthyosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs774363396
rs774363396
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C0020758
Disease:
Congenital ichthyosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs774363396
rs774363396
Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C4539772
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		A 0.700 CausalMutation CLINVAR