KLRC4-KLRK1, KLRC4-KLRK1 readthrough, 100528032

N. diseases: 246; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2617170
rs2617170
Entrez Id: 8302;100528032
Gene Symbol: KLRC4;KLRC4-KLRK1
KLRC4;KLRC4-KLRK1
CUI: C0004943
Disease:
Behcet Syndrome
0.820 GeneticVariation BEFREE Significantly increased frequencies of the A allele as well as AA genotype of rs1800450 in MBL2 (Pc = 2.50 × 10<sup>-6</sup>, OR = 1.494; Pc = 2.24 × 10<sup>-6</sup>,OR = 2.899; respectively) and TT genotype of rs2617170 in KLRC4 (Pc = 2.53 × 10<sup>-6</sup>, OR = 1.695) and decreased frequencies of GG genotype of rs1800450 (Pc = 1.56 × 10-3, OR = 0.689) and C allele as well as CC genotype of rs2617170 (Pc = 2.05 × 10-9,OR = 0.664; Pc = 1.20 × 10-5, OR = 0.585; respectively) were observed in BD. 28706259 2017
dbSNP: rs2617170
rs2617170
Entrez Id: 8302;100528032
Gene Symbol: KLRC4;KLRC4-KLRK1
KLRC4;KLRC4-KLRK1
CUI: C0004943
Disease:
Behcet Syndrome
0.820 GeneticVariation BEFREE For all 6 SNPs tested by meta-analysis (Pmeta ), the association with BD was strengthened, because the direction and magnitude of association were similar across populations (e.g., for rs7574070, odds ratio [OR] for A allele 1.29 [95% confidence interval (95% CI) 1.21-1.37], Pmeta  = 2.34 × 10(-16) ; for rs7616215, OR for C allele 0.70 [95% CI 0.65-0.76], Pmeta  = 1.54 × 10(-19) ; for rs17810546, OR for A allele 0.60 [95% CI 0.52-0.70], Pmeta  = 6.34 × 10(-11) ; for rs2617170, OR for T allele 0.76 [95% CI 0.70-0.81], Pmeta  = 2.75 × 10(-14) ; for rs13154629, OR for TT genotype 2.76 [95% CI 2.01-3.80], Pmeta  = 3.57 × 10(-10) ). 26097239 2015
dbSNP: rs2617170
rs2617170
Entrez Id: 8302;100528032
Gene Symbol: KLRC4;KLRC4-KLRK1
KLRC4;KLRC4-KLRK1
CUI: C0004943
Disease:
Behcet Syndrome
T 0.820 GeneticVariation GWASDB Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. 23291587 2013
dbSNP: rs2617170
rs2617170
Entrez Id: 8302;100528032
Gene Symbol: KLRC4;KLRC4-KLRK1
KLRC4;KLRC4-KLRK1
CUI: C0004943
Disease:
Behcet Syndrome
T 0.820 GeneticVariation GWASCAT Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. 23291587 2013
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE Prevalence of the NKG2D Thr72Ala polymorphism in patients with systemic lupus erythematosus. 21598106 2012
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE In conclusion, based on our study results, SLE is associated with the SNP rs2255336 of NKG2D. 19735685 2010
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0158945
Disease:
Congenital cytomegalovirus infection
0.010 GeneticVariation BEFREE A Thr72Ala polymorphism in the NKG2D gene is associated with early symptomatic congenital cytomegalovirus disease. 25861030 2015
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE Using polymerase chain reaction-restriction fragment length polymorphisms, we examined the NKG2D Thr72Ala polymorphism in patients with cervical cancer (n=353) and controls (n=366) in a Polish population. 22480139 2012
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE Using polymerase chain reaction-restriction fragment length polymorphisms, we examined the NKG2D Thr72Ala polymorphism in patients with cervical cancer (n=353) and controls (n=366) in a Polish population. 22480139 2012
dbSNP: rs2255336
rs2255336
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE Using polymerase chain reaction-restriction fragment length polymorphisms, we examined the NKG2D Thr72Ala polymorphism in patients with cervical cancer (n=353) and controls (n=366) in a Polish population. 22480139 2012
dbSNP: rs2617160
rs2617160
Entrez Id: 100528032;101928100
Gene Symbol: KLRC4-KLRK1;LOC101928100
KLRC4-KLRK1;LOC101928100
CUI: C0524909
Disease:
Hepatitis B, Chronic
0.010 GeneticVariation BEFREE Single marker association analysis was conducted and the SNP rs2617160 with a TT genotype in NKG2D was associated significantly with an increased risk of chronic hepatitis B (P = 0.044; OR = 1.49; 95% CI = 1.01-2.19). 20648603 2010
dbSNP: rs11053781
rs11053781
Entrez Id: 22914;100528032;101928100
Gene Symbol: KLRK1;KLRC4-KLRK1;LOC101928100
KLRK1;KLRC4-KLRK1;LOC101928100
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE Two of the NKG2D SNPs were associated with an increased risk of CCA: rs11053781 [odds ratio (OR) = 2.08, 95% confidence interval (CI) = 1.31-3.29, corrected P (P(c)) = 0.011] and rs2617167 (OR = 2.32, 95% CI = 1.47-3.66, P(c) = 0.0020). 18023027 2008
dbSNP: rs2617167
rs2617167
Entrez Id: 100528032
Gene Symbol: KLRC4-KLRK1
KLRC4-KLRK1
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE Two of the NKG2D SNPs were associated with an increased risk of CCA: rs11053781 [odds ratio (OR) = 2.08, 95% confidence interval (CI) = 1.31-3.29, corrected P (P(c)) = 0.011] and rs2617167 (OR = 2.32, 95% CI = 1.47-3.66, P(c) = 0.0020). 18023027 2008