C1QTNF6, C1q and TNF related 6, 114904

N. diseases: 33; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 3 2008 2015
dbSNP: rs229527
rs229527 		0.925 0.160 22 37185445 missense variant C/A;G snv 0.43
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 2 2013 2017
dbSNP: rs229527
rs229527 		0.925 0.160 22 37185445 missense variant C/A;G snv 0.43
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.800 1.000 4 2010 2016
dbSNP: rs229526
rs229526 		1.000 0.120 22 37185382 missense variant G/C;T snv 0.19; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs229533
rs229533 		1.000 0.120 22 37191071 intron variant A/C snv 0.50
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs229540
rs229540 		1.000 0.040 22 37195250 intron variant T/G snv 0.49
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs229541
rs229541 		0.807 0.200 22 37195278 intron variant G/A snv 0.49
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		Infections 0.010 1.000 1 2015 2015