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: 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: 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: rs2327089
rs2327089 		1.000 0.080 20 8788533 splice region variant C/T snv 0.95 0.90
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: rs2327101
rs2327101 		1.000 0.080 20 8753616 intron variant A/G snv 0.92
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: 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: rs4633993
rs4633993 		1.000 0.080 20 8789461 intron variant A/C snv 0.90
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: rs6039266
rs6039266 		1.000 0.080 20 8785424 intron variant A/G snv 0.90
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: rs6039272
rs6039272 		1.000 0.080 20 8792227 intron variant T/C snv 0.88
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: rs6056066
rs6056066 		1.000 0.080 20 8757522 intron variant T/C snv 0.92
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: rs6056126
rs6056126 		1.000 0.080 20 8795023 intron variant T/C snv 0.89
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: 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: 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: 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: 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: 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: rs1883932
rs1883932 		20 8628941 intron variant A/T snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1883932
rs1883932 		20 8628941 intron variant A/T snv 0.58
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
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: rs4432538
rs4432538 		20 8626746 intron variant G/A snv 0.52
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4432538
rs4432538 		20 8626746 intron variant G/A snv 0.52
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4432538
rs4432538 		20 8626746 intron variant G/A snv 0.52
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016