SLC8A1, solute carrier family 8 member A1, 6546

N. diseases: 146; N. variants: 24
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: rs13017846
rs13017846 		2 40530651 intron variant A/G snv 6.8E-02
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 2 2012 2019
dbSNP: rs17025867
rs17025867 		1.000 0.080 2 40351419 intron variant G/A snv 1.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs12997023
rs12997023 		2 40525842 intron variant T/C snv 8.1E-02
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs17026156
rs17026156 		2 40533825 intron variant T/C snv 6.8E-02
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 2 2014 2019
dbSNP: rs4952632
rs4952632 		2 40520865 intron variant T/G snv 8.5E-02
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 2 2014 2019
dbSNP: rs10490046
rs10490046 		2 40403538 intron variant A/C snv 0.28
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs1641457
rs1641457 		2 40194850 intron variant T/A;C;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs17026148
rs17026148 		2 40530430 intron variant G/A snv 9.1E-02
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs2192768
rs2192768 		2 40298792 intron variant C/T snv 0.53
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2301343
rs2301343 		2 40453009 intron variant T/G snv 0.22
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2301343
rs2301343 		2 40453009 intron variant T/G snv 0.22
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs35450971
rs35450971 		2 40527174 intron variant T/A;C;G snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs35732522
rs35732522 		2 40486025 intron variant A/C snv 0.31
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs374153
rs374153 		2 40155572 intron variant C/G;T snv
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs404005
rs404005 		1.000 0.160 2 40168938 intron variant C/T snv 0.59
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex 		Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs4952611
rs4952611 		2 40340603 intron variant C/T snv 0.63
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs6544311
rs6544311 		2 40126137 intron variant A/C snv 0.57
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs6544325
rs6544325 		2 40357590 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6544334
rs6544334 		2 40369384 intron variant A/C snv 0.68
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2009 2009
dbSNP: rs487119
rs487119 		1.000 0.040 2 40261737 intron variant G/A snv 0.54
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		Otorhinolaryngologic Diseases 0.020 1.000 2 2017 2019
dbSNP: rs11893826
rs11893826 		0.925 0.160 2 40337507 intron variant G/A snv 0.27
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11893826
rs11893826 		0.925 0.160 2 40337507 intron variant G/A snv 0.27
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs148383040
rs148383040 		1.000 0.040 2 40170319 missense variant C/G;T snv 4.8E-05; 4.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs434082
rs434082 		0.925 0.160 2 40257934 intron variant C/T snv 0.14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs434082
rs434082 		0.925 0.160 2 40257934 intron variant C/T snv 0.14
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2015 2015