CLCN6, chloride voltage-gated channel 6, 1185

N. diseases: 24; N. variants: 25
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: rs5068
rs5068 		0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2017
dbSNP: rs198358
rs198358 		0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2011
dbSNP: rs112521149
rs112521149 		1 11829758 intron variant G/A snv 6.0E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs12744757
rs12744757 		1 11846764 intron variant C/T snv 4.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs13306560
rs13306560 		1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13306560
rs13306560 		1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2010 2010
dbSNP: rs13306560
rs13306560 		1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13306561
rs13306561 		1 11805747 5 prime UTR variant A/G snv 0.18
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13306561
rs13306561 		1 11805747 5 prime UTR variant A/G snv 0.18
CUI: C0427418
Disease: Folic acid measurement, RBC
Folic acid measurement, RBC 		0.700 1.000 1 2018 2018
dbSNP: rs149764880
rs149764880 		1 11820674 non coding transcript exon variant G/T snv 0.14
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs149764880
rs149764880 		1 11820674 non coding transcript exon variant G/T snv 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs149764880
rs149764880 		1 11820674 non coding transcript exon variant G/T snv 0.14
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17037452
rs17037452 		1 11835618 intron variant A/G snv 0.18
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17037452
rs17037452 		1 11835618 intron variant A/G snv 0.18
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17037452
rs17037452 		1 11835618 intron variant A/G snv 0.18
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs198358
rs198358 		0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs198358
rs198358 		0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs198358
rs198358 		0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs202071545
rs202071545 		1 11818105 intron variant AAAA/-;AAA;AAAAA;AAAAAA delins
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs202071545
rs202071545 		1 11818105 intron variant AAAA/-;AAA;AAAAA;AAAAAA delins
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3737964
rs3737964 		1.000 0.080 1 11806987 intron variant T/A;C;G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3753584
rs3753584 		0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3753584
rs3753584 		0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3753584
rs3753584 		0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3753584
rs3753584 		0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014