rs104894412, GJB2

N. diseases: 2
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.
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.925 0.320 13 20189420 missense variant G/T snv 0.800 1.000 2 2004 2005
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
5 0.925 0.320 13 20189420 missense variant G/T snv 0.010 1.000 1 2004 2004