Source: ALL
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: rs1553549717
rs1553549717
1.000 2 166051871 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 19 1997 2014