rs1554442015, TWIST1

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.
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
Prominent crus of helix
CUI: C4021377
Disease: Prominent crus of helix
1 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0