Disease: RETINITIS PIGMENTOSA 78 ×
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: rs987233144
rs987233144 		1.000 19 7444215 missense variant A/G snv 2.1E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.800 0
dbSNP: rs1064793000
rs1064793000 		1.000 19 7462259 stop gained C/T snv 1.4E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 0
dbSNP: rs1064793001
rs1064793001 		1.000 19 7467501 inframe deletion GGCTGGAGCAGGAGCGGGCCGAGC/- delins
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 0
dbSNP: rs1064793002
rs1064793002 		1.000 19 7456408 splice region variant G/A snv
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 0
dbSNP: rs767689418
rs767689418 		1.000 19 7467400 stop gained G/C;T snv 3.8E-05
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 0