KL, klotho, 9365

N. diseases: 332; N. variants: 20
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: rs650439
rs650439 		1.000 0.080 13 33061802 intron variant T/A snv 0.82 0.81
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2018
dbSNP: rs211234
rs211234 		1.000 0.040 13 33020990 intron variant G/A;C snv
CUI: C0033117
Disease: Priapism
Priapism 		Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs211239
rs211239 		1.000 0.040 13 33022051 intron variant A/G;T snv
CUI: C0033117
Disease: Priapism
Priapism 		Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2283368
rs2283368 		1.000 0.040 13 33019132 intron variant T/C snv 0.15
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2283368
rs2283368 		1.000 0.040 13 33019132 intron variant T/C snv 0.15
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs472875
rs472875 		13 33039909 intron variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs472875
rs472875 		13 33039909 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs472875
rs472875 		13 33039909 intron variant A/G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs495392
rs495392 		1.000 0.040 13 33018055 intron variant C/A snv 0.24
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs495392
rs495392 		1.000 0.040 13 33018055 intron variant C/A snv 0.24
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs562020
rs562020 		1.000 0.040 13 33017932 intron variant A/G snv 0.69
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs567170
rs567170 		1.000 0.040 13 33043649 intron variant C/G snv 0.32
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs650439
rs650439 		1.000 0.080 13 33061802 intron variant T/A snv 0.82 0.81
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs650439
rs650439 		1.000 0.080 13 33061802 intron variant T/A snv 0.82 0.81
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9526984
rs9526984 		1.000 0.040 13 33035800 intron variant A/G snv 5.5E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs9526984
rs9526984 		1.000 0.040 13 33035800 intron variant A/G snv 5.5E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs9536282
rs9536282 		1.000 13 33043525 intron variant C/T snv 0.19
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		0.010 1.000 1 2019 2019
dbSNP: rs9563121
rs9563121 		0.925 0.080 13 33050369 intron variant C/T snv 0.26
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs9563121
rs9563121 		0.925 0.080 13 33050369 intron variant C/T snv 0.26
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs9563121
rs9563121 		0.925 0.080 13 33050369 intron variant C/T snv 0.26
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs9563121
rs9563121 		0.925 0.080 13 33050369 intron variant C/T snv 0.26
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs121908423
rs121908423 		0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06
CUI: C4693864
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		0.800 1.000 1 2007 2007
dbSNP: rs121908423
rs121908423 		0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3752472
rs3752472 		0.882 0.120 13 33055256 missense variant C/T snv 2.9E-02 1.5E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3752472
rs3752472 		0.882 0.120 13 33055256 missense variant C/T snv 2.9E-02 1.5E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013