RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
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: rs794728708
rs794728708 		0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 7 2005 2014
dbSNP: rs794728811
rs794728811 		0.925 0.080 1 237832619 missense variant G/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 4 2003 2016
dbSNP: rs10495399
rs10495399 		1 237648783 intron variant T/G snv 5.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10495399
rs10495399 		1 237648783 intron variant T/G snv 5.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121918600
rs121918600 		0.882 0.080 1 237791441 missense variant C/T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2002 2002
dbSNP: rs1401116572
rs1401116572 		1.000 0.080 1 237441382 missense variant G/A snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2015 2015
dbSNP: rs1415931588
rs1415931588 		1.000 0.080 1 237377426 missense variant A/T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2011 2011
dbSNP: rs1571980
rs1571980 		1 237664204 intron variant T/C snv 1.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1571980
rs1571980 		1 237664204 intron variant T/C snv 1.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16835265
rs16835265 		1 237454065 intron variant G/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs200236750
rs200236750 		1 237566672 missense variant C/T snv 4.2E-04 5.2E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.700 1.000 1 2016 2016
dbSNP: rs200918659
rs200918659 		1 237402409 intron variant T/- del 3.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2685289
rs2685289 		1 237746239 intron variant C/T snv 0.93
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2797436
rs2797436 		0.925 0.040 1 237700418 synonymous variant T/A;G snv 7.0E-05; 0.99
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs3766889
rs3766889 		1 237778481 intron variant T/G snv 8.4E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2018 2018
dbSNP: rs3766889
rs3766889 		1 237778481 intron variant T/G snv 8.4E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2018 2018
dbSNP: rs794728708
rs794728708 		0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2009 2009
dbSNP: rs876793
rs876793 		1 237688783 intron variant T/C snv 0.24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs876793
rs876793 		1 237688783 intron variant T/C snv 0.24
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2013 2013
dbSNP: rs886037907
rs886037907 		1.000 1 237792278 missense variant C/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 1 2017 2017
dbSNP: rs121918597
rs121918597 		0.925 0.080 1 237634937 missense variant C/T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918598
rs121918598 		0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918599
rs121918599 		0.925 0.080 1 237784024 missense variant C/G snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918600
rs121918600 		0.882 0.080 1 237791441 missense variant C/T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918603
rs121918603 		0.882 0.080 1 237639068 missense variant C/T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0