CALD1, caldesmon 1, 800

N. diseases: 94; N. variants: 6
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: rs756573441
rs756573441
1.000 0.120 7 134933359 missense variant A/G;T snv 4.2E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005