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: rs121917849
rs121917849
0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2002