Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894054
rs104894054
TWIST1
1 1.000 0.080 7 19117013 stop gained G/C;T snv 0.710 1.000 1 2002 2002