rs281875321, SMAD4

N. diseases: 3
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.
Myhre syndrome
CUI: C0796081
Disease: Myhre syndrome
7 0.925 0.360 18 51078307 missense variant T/C snv 0.800 1.000 2 2011 2012
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.925 0.360 18 51078307 missense variant T/C snv 0.010 1.000 1 2012 2012
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.360 18 51078307 missense variant T/C snv 0.010 1.000 1 2012 2012