GAN, gigaxonin, 8139

N. diseases: 71; N. variants: 24
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: rs771785420
rs771785420
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
Musculoskeletal Diseases 0.700 0