Disease: RETINITIS PIGMENTOSA 56 ×
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: rs1553681433
rs1553681433 		1.000 3 101244505 frameshift variant A/- del
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs1553687118
rs1553687118 		1.000 3 101320286 splice donor variant A/T snv
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs267606874
rs267606874 		0.925 0.080 3 101275694 stop gained G/C snv
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs267606875
rs267606875 		0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs267606876
rs267606876 		1.000 3 101243615 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0