rs1554442082, TWIST1

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.
Craniosynostosis, Type 1
CUI: C4551902
Disease: Craniosynostosis, Type 1
28 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013