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: rs1169891186
rs1169891186
1.000 0.080 22 24322362 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0