Source: CLINVAR ×
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: rs1387102485
rs1387102485 		1.000 0.080 11 62613517 frameshift variant -/G delins 1.2E-05
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs768652143
rs768652143 		1.000 0.080 11 62614642 stop gained C/A;T snv 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0