rs1040124120, ZHX2

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.
Deformity of bone
CUI: C0410719
Disease: Deformity of bone
2 1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2018 2018
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2018 2018