SLC19A1, solute carrier family 19 member 1, 6573

N. diseases: 155; N. variants: 47
Disease: Retinitis Pigmentosa ×
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: rs398122391
rs398122391 		0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0