rs397514481, PLCB4

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AURICULOCONDYLAR SYNDROME 2
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
9 0.882 0.040 20 9409080 missense variant G/A;T snv 0.800 1.000 2 2012 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.040 20 9409080 missense variant G/A;T snv 0.700 1.000 6 2005 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.040 20 9409080 missense variant G/A;T snv 0.700 1.000 6 2005 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.040 20 9409080 missense variant G/A;T snv 0.700 1.000 6 2005 2017
Auriculocondylar syndrome 1
CUI: C4551996
Disease: Auriculocondylar syndrome 1
7 0.882 0.040 20 9409080 missense variant G/A;T snv 0.700 1.000 1 2012 2012