rs1554441993, TWIST1

N. diseases: 2
Disease: Saethre-Chotzen Syndrome ×
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.
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.925 0.080 7 19116913 frameshift variant -/G delins 0.700 1.000 1 2013 2013