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: 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: 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
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
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: 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: 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: 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: 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: 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: rs9527025
rs9527025 		1.000 0.040 13 33054056 missense variant G/C;T snv 0.14
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: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0