Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs773724817
rs773724817
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 1999 2016