PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: Auriculocondylar syndrome 1 ×
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: 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