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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 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: 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: 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
dbSNP: rs2596164
rs2596164 		1.000 0.080 15 33466687 intron variant G/A snv 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2596164
rs2596164 		1.000 0.080 15 33466687 intron variant G/A snv 0.58
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
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