Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1034630858
rs1034630858
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370 2002
dbSNP: rs1034630858
rs1034630858
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
dbSNP: rs1057517445
rs1057517445
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060500034
rs1060500034
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1060500039
rs1060500039
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1085307054
rs1085307054
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002
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: rs1192396248
rs1192396248
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1203193062
rs1203193062
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1217507627
rs1217507627
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1218465638
rs1218465638
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
dbSNP: rs1218465638
rs1218465638
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. 22876109 2012
dbSNP: rs1220975714
rs1220975714
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		CTTGGAATGTCTTTCCAAGA 0.700 GeneticVariation CLINVAR Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002
dbSNP: rs1225343345
rs1225343345
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
dbSNP: rs1225343345
rs1225343345
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
dbSNP: rs1225343345
rs1225343345
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 21157496 2011
dbSNP: rs1230351650
rs1230351650
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		AT 0.700 GeneticVariation CLINVAR
dbSNP: rs1246023978
rs1246023978
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
dbSNP: rs1275113273
rs1275113273
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1275113273
rs1275113273
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		T 0.700 CausalMutation CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
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: rs1296683633
rs1296683633
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1313101326
rs1313101326
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1318520999
rs1318520999
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease:
Alstrom Syndrome 		A 0.700 CausalMutation CLINVAR