RYR3, ryanodine receptor 3, 6263

N. diseases: 40; N. variants: 9
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: rs11072541
rs11072541 		0.925 0.040 15 33555179 intron variant G/A snv 2.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11072541
rs11072541 		0.925 0.040 15 33555179 intron variant G/A snv 2.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12901404
rs12901404 		1.000 0.040 15 33783099 intron variant T/C snv 0.16
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs16973282
rs16973282 		0.925 0.040 15 33614399 intron variant A/G snv 5.5E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs16973282
rs16973282 		0.925 0.040 15 33614399 intron variant A/G snv 5.5E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.700 1.000 1 2010 2010
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1044129
rs1044129 		0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2229116
rs2229116 		0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2278317
rs2278317 		1.000 0.080 15 33768539 intron variant C/T snv 0.67
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2278317
rs2278317 		1.000 0.080 15 33768539 intron variant C/T snv 0.67
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018