SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909297
rs121909297
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909296
rs121909296
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1267810339
rs1267810339
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1267810339
rs1267810339
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554094947
rs1554094947
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		AGGTG 0.700 CausalMutation CLINVAR
dbSNP: rs1554137109
rs1554137109
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137109
rs1554137109
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137130
rs1554137130
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137130
rs1554137130
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs267607045
rs267607045
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397517921
rs397517921
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0027868
Disease:
Neuromuscular Diseases 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517923
rs397517923
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397517923
rs397517923
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0027868
Disease:
Neuromuscular Diseases 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121909297
rs121909297
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		0.800 GeneticVariation UNIPROT A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. 9832045 1998
dbSNP: rs10056066
rs10056066
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		A 0.700 GeneticVariation GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
dbSNP: rs456290
rs456290
Entrez Id: 6444;105377673
Gene Symbol: SGCD;LOC105377673
SGCD;LOC105377673
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.700 GeneticVariation GWASDB A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease. 21221998 2011
dbSNP: rs17053011
rs17053011
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C4721579
Disease:
Secondary malignant neoplasm of colon and/or rectum 		T 0.700 GeneticVariation GWASCAT A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. 30738427 2019
dbSNP: rs2163746
rs2163746
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C4721579
Disease:
Secondary malignant neoplasm of colon and/or rectum 		C 0.700 GeneticVariation GWASCAT A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. 30738427 2019
dbSNP: rs1554094927
rs1554094927
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 10838250 2000
dbSNP: rs931798
rs931798
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06⁻3.14; <i>p</i> = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03⁻3.21; <i>p</i> = 0.038) compared to the G/G homozygous genotype. 30257524 2018
dbSNP: rs794316
rs794316
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE An association of the rs794316 polymorphism with cancer risk was detected in two genetic models (TT vs. AA: OR = 1.34, 95% CI = 1.03-1.74, P <0.001; TT vs. AT+AA: OR = 1.39, 95% CI = 1.09-1.77, P = 0.01). 27449288 2016
dbSNP: rs794316
rs794316
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE An association of the rs794316 polymorphism with cancer risk was detected in two genetic models (TT vs. AA: OR = 1.34, 95% CI = 1.03-1.74, P <0.001; TT vs. AT+AA: OR = 1.39, 95% CI = 1.09-1.77, P = 0.01). 27449288 2016