TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
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: rs181109321
rs181109321
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999