rs104894055, 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.
Saethre-Chotzen Syndrome with Eyelid Anomalies
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
1 0.925 0.080 7 19117240 stop gained G/A snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.925 0.080 7 19117240 stop gained G/A snv 0.010 1.000 1 2002 2002