PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
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: rs1015092
rs1015092 		1.000 0.080 20 8769415 intron variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555790846
rs1555790846 		1.000 0.040 20 8790220 missense variant C/T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2743173
rs2743173 		1.000 0.080 20 8264646 intron variant T/A;C;G snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4053148
rs4053148 		1.000 0.080 20 8791897 intron variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6056119
rs6056119 		1.000 0.080 20 8792648 3 prime UTR variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6077414
rs6077414 		20 8723905 intron variant T/A;C snv
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.800 1.000 1 2013 2013
dbSNP: rs6077414
rs6077414 		20 8723905 intron variant T/A;C snv
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs975633
rs975633 		1.000 0.080 20 8784642 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1060499765
rs1060499765 		20 8737163 missense variant T/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1568577135
rs1568577135 		1.000 20 8733382 frameshift variant CTGT/- delins
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.700 0
dbSNP: rs139465532
rs139465532 		1.000 20 8348184 intron variant C/G snv 6.8E-03
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs115205687
rs115205687 		20 8915129 intron variant G/T snv 2.2E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs115205687
rs115205687 		20 8915129 intron variant G/T snv 2.2E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs1509117
rs1509117 		20 8322473 intron variant T/A snv 0.21
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7271421
rs7271421 		20 8840453 intron variant T/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs6055748
rs6055748 		20 8334670 intron variant A/G snv 0.28
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4299396
rs4299396 		1.000 0.080 20 8934668 intron variant A/T snv 0.30
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6055685
rs6055685 		1.000 0.040 20 8233139 intron variant G/A snv 0.34
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs6039251
rs6039251 		20 8748849 intron variant T/C snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6108168
rs6108168 		20 8645624 intron variant C/A snv 0.35
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs984283
rs984283 		20 8330815 intron variant A/G snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs708915
rs708915 		20 8420020 intron variant T/A snv 0.37
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6039211
rs6039211 		20 8635941 intron variant A/G snv 0.42
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6039216
rs6039216 		20 8641833 intron variant T/C snv 0.46
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8121126
rs8121126 		20 8148844 intron variant C/A snv 0.51
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019