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: rs121908423
rs121908423
0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
0.800 1.000 1 2007 2007
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
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: rs649964
rs649964
13 33061698 missense variant T/A;C snv 8.0E-06; 0.99
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs649964
rs649964
13 33061698 missense variant T/A;C snv 8.0E-06; 0.99
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs649964
rs649964
13 33061698 missense variant T/A;C snv 8.0E-06; 0.99
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs121908423
rs121908423
0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
0.700 0
dbSNP: rs139939367
rs139939367
1.000 0.080 13 33064008 missense variant C/A;T snv 4.0E-06; 9.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
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: rs1207568
rs1207568
0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs1207568
rs1207568
0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1207568
rs1207568
0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
Mental Disorders 0.010 1.000 1 2017 2017
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: 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: rs36217263
rs36217263
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs36217263
rs36217263
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs36217263
rs36217263
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs36217263
rs36217263
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2020 2020
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
dbSNP: rs3752472
rs3752472
0.882 0.120 13 33055256 missense variant C/T snv 2.9E-02 1.5E-02
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013