rs104894003, ACTB

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Juvenile-onset dystonia
CUI: C1846331
Disease: Juvenile-onset dystonia
2 0.827 0.320 7 5528536 missense variant G/A snv 0.800 1.000 2 2002 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.320 7 5528536 missense variant G/A snv 0.700 1.000 10 1999 2017
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
30 0.827 0.320 7 5528536 missense variant G/A snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
Fryns-Aftimos Syndrome
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
1 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2017 2017
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2017 2017