Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1284826852
rs1284826852
0.925 0.200 1 215993152 frameshift variant -/A delins 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553281890
rs1553281890
0.925 0.200 1 215965331 frameshift variant -/AT delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs587776538
rs587776538
0.925 0.200 1 216422096 frameshift variant -/ATCG;TACG delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553313793
rs1553313793
0.925 0.200 1 216199757 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2014 2014
dbSNP: rs1553256576
rs1553256576
0.925 0.200 1 215728280 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553256587
rs1553256587
0.925 0.200 1 215728361 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553285970
rs1553285970
0.925 0.200 1 215993149 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs774573692
rs774573692
0.925 0.200 1 215888469 frameshift variant -/C delins 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs886041502
rs886041502
0.925 0.200 1 215888698 frameshift variant -/G delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 2 2016 2016
dbSNP: rs1553294144
rs1553294144
0.925 0.200 1 216046577 frameshift variant -/G delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs397518043
rs397518043
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2014 2014
dbSNP: rs1553258097
rs1553258097
0.882 0.200 1 216422097 frameshift variant -/GTAC delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 2 2000 2001
dbSNP: rs727503731
rs727503731
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2012 2012
dbSNP: rs1553253747
rs1553253747
1.000 1 216365069 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553259060
rs1553259060
0.925 0.200 1 215758693 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553277866
rs1553277866
0.925 0.200 1 215934785 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553282698
rs1553282698
0.925 0.200 1 215970713 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553300558
rs1553300558
0.925 0.200 1 216089079 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553261387
rs1553261387
0.925 0.200 1 215782185 frameshift variant -/TA delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1553313308
rs1553313308
0.925 0.200 1 216196610 frameshift variant -/TCATA delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 0
dbSNP: rs1212608410
rs1212608410
0.925 0.200 1 215674211 frameshift variant A/- del 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 2 2014 2016
dbSNP: rs751176116
rs751176116
0.925 0.200 1 215900145 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 2 2014 2016
dbSNP: rs1295968274
rs1295968274
0.925 0.200 1 215634556 frameshift variant A/- del 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs1553313551
rs1553313551
0.925 0.200 1 216198505 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2009 2009
dbSNP: rs1553313810
rs1553313810
0.925 0.200 1 216199849 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
0.700 1.000 1 2007 2007