Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111770942
rs111770942
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs2421552
rs2421552
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs10193972
rs10193972
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C3150077
Disease:
Mild short stature 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0036439
Disease:
Scoliosis, unspecified 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C2711227
Disease:
Steatohepatitis 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs1553403917
rs1553403917
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0028754
Disease:
Obesity 		CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
dbSNP: rs2421552
rs2421552
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs539612316
rs539612316
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 27665122 2018
dbSNP: rs6546856
rs6546856
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs6546857
rs6546857
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs6726694
rs6726694
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs1553404283
rs1553404283
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. 28432734 2017
dbSNP: rs4500972
rs4500972
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
dbSNP: rs4500972
rs4500972
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
dbSNP: rs1275113273
rs1275113273
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
dbSNP: rs1553404109
rs1553404109
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		AT 0.700 CausalMutation CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121 2016
dbSNP: rs35273932
rs35273932
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs367877017
rs367877017
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR Genetic evaluation of patients with Alström syndrome in the Polish population. 26283575 2016
dbSNP: rs6546838
rs6546838
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs6546838
rs6546838
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs755616266
rs755616266
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121 2016