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: rs1555100954
rs1555100954
1.000 11 71118963 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 12 2010 2017