Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2681424
rs2681424
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0026769
Disease:
Multiple Sclerosis 		0.800 GeneticVariation GWASCAT Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. 27386562 2016
dbSNP: rs2681424
rs2681424
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0026769
Disease:
Multiple Sclerosis 		T 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs2681424
rs2681424
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0026769
Disease:
Multiple Sclerosis 		T 0.800 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs113229608
rs113229608
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1806656
rs1806656
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0004096
Disease:
Asthma 		C 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs1806656
rs1806656
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0264408
Disease:
Childhood asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs2332036
rs2332036
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs9816720
rs9816720
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2255214
rs2255214
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0026769
Disease:
Multiple Sclerosis 		T 0.700 GeneticVariation GWASCAT Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. 26819262 2016
dbSNP: rs2255214
rs2255214
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0026769
Disease:
Multiple Sclerosis 		C 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
dbSNP: rs372564314
rs372564314
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 21255762 2011
dbSNP: rs771818841
rs771818841
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 21255762 2011
dbSNP: rs1226171550
rs1226171550
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1226171550
rs1226171550
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559870857
rs1559870857
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0011053
Disease:
Deafness 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1559875009
rs1559875009
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1559875009
rs1559875009
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907015
rs387907015
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907016
rs387907016
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907017
rs387907017
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs571007078
rs571007078
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1865866
Disease:
Congenital sensorineural hearing loss 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs775062249
rs775062249
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs775062249
rs775062249
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1864818
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs2715267
rs2715267
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0036690
Disease:
Septicemia 		0.010 GeneticVariation BEFREE Nevertheless, rs2715267 had no significant association with sepsis susceptibility (P > .05).AA genotype and A allele of CD86 polymorphism rs1129055 might be correlated with decreased sepsis susceptibility in Chinese Han population, but not rs2715267. 31651850 2019
dbSNP: rs2715267
rs2715267
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C0243026
Disease:
Sepsis 		0.010 GeneticVariation BEFREE Nevertheless, rs2715267 had no significant association with sepsis susceptibility (P > .05).AA genotype and A allele of CD86 polymorphism rs1129055 might be correlated with decreased sepsis susceptibility in Chinese Han population, but not rs2715267. 31651850 2019