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: rs1553479216
rs1553479216
2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 21 1995 2016