PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: AURICULOCONDYLAR SYNDROME 2 ×
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: 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: 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: 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