STAB2, stabilin 2, 55576

N. diseases: 22; N. variants: 11
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: rs7138824
rs7138824
0.925 0.040 12 103714729 intron variant C/T snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018