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: rs527236116
rs527236116 		0.925 0.080 9 32541968 frameshift variant CTCT/-;CT delins 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2007 2019
dbSNP: rs1554671407
rs1554671407 		1.000 0.080 9 32541956 frameshift variant T/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2008 2008
dbSNP: rs628425
rs628425 		1.000 0.040 9 32549604 intron variant T/C snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs869312183
rs869312183 		9 32541986 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1563983151
rs1563983151 		1.000 0.080 9 32541972 frameshift variant TCTG/- delins
CUI: C1835923
Disease: Retinitis Pigmentosa 31
Retinitis Pigmentosa 31 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236116
rs527236116 		0.925 0.080 9 32541968 frameshift variant CTCT/-;CT delins 1.4E-05
CUI: C1835923
Disease: Retinitis Pigmentosa 31
Retinitis Pigmentosa 31 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0