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: rs104894195
rs104894195
0.882 0.120 11 67490910 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0017547
Disease: Gigantism
Gigantism
Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016