PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
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: rs397514481
rs397514481 		0.882 0.040 20 9409080 missense variant G/A;T snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.800 1.000 2 2012 2013
dbSNP: rs2072910
rs2072910 		20 9384656 intron variant T/C snv 0.23
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.800 1.000 1 2010 2010
dbSNP: rs387907179
rs387907179 		0.925 0.040 20 9384333 missense variant A/C;G snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs397514480
rs397514480 		0.925 0.040 20 9409086 missense variant A/G snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs397514482
rs397514482 		0.925 0.040 20 9409079 missense variant C/A;T snv 4.1E-06
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs397514483
rs397514483 		0.925 0.040 20 9409166 missense variant A/C snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs397514481
rs397514481 		0.882 0.040 20 9409080 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2005 2017
dbSNP: rs397514481
rs397514481 		0.882 0.040 20 9409080 missense variant G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2005 2017
dbSNP: rs397514481
rs397514481 		0.882 0.040 20 9409080 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2005 2017
dbSNP: rs2299682
rs2299682 		0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs2299682
rs2299682 		0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs2299682
rs2299682 		0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs2327129
rs2327129 		20 9067021 upstream gene variant G/A snv 0.83
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs387907179
rs387907179 		0.925 0.040 20 9384333 missense variant A/C;G snv
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397514480
rs397514480 		0.925 0.040 20 9409086 missense variant A/G snv
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397514481
rs397514481 		0.882 0.040 20 9409080 missense variant G/A;T snv
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397514482
rs397514482 		0.925 0.040 20 9409079 missense variant C/A;T snv 4.1E-06
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397514483
rs397514483 		0.925 0.040 20 9409166 missense variant A/C snv
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1568763104
rs1568763104 		0.882 0.160 20 9409106 missense variant G/A;T snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.700 0
dbSNP: rs1568763104
rs1568763104 		0.882 0.160 20 9409106 missense variant G/A;T snv
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1568763104
rs1568763104 		0.882 0.160 20 9409106 missense variant G/A;T snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs397514769
rs397514769 		1.000 20 9387471 missense variant A/T snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.700 0
dbSNP: rs397514770
rs397514770 		1.000 20 9387476 missense variant G/A snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.700 0
dbSNP: rs397514771
rs397514771 		1.000 20 9387477 missense variant A/T snv
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.700 0