rs368631447, DYNC2H1

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.
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
108 0.925 0.120 11 103253384 missense variant C/T snv 3.6E-05; 8.0E-06 2.8E-05 0.800 1.000 4 2009 2013
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.925 0.120 11 103253384 missense variant C/T snv 3.6E-05; 8.0E-06 2.8E-05 0.700 0