Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142441643
rs142441643
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 4 2010 2017