KLRD1, killer cell lectin like receptor D1, 3824

N. diseases: 53; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7953558
rs7953558
Entrez Id: 3824
Gene Symbol: KLRD1
KLRD1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs7953558
rs7953558
Entrez Id: 3824
Gene Symbol: KLRD1
KLRD1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs769283795
rs769283795
Entrez Id: 3824
Gene Symbol: KLRD1
KLRD1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE However, although statistically not significant, NKG2-A c.238T>A (Cys80Ser) was observed in three patients with RA, but in none of the healthy individuals and the patients with SLE. 12618865 2003