DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: rs59962885
rs59962885
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0024003
Disease: Lordosis
Lordosis
Musculoskeletal Diseases 0.700 0