Disease: RETINITIS PIGMENTOSA 76 ×
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: rs200863680
rs200863680 		1.000 1 46194293 missense variant A/C snv 1.2E-05 2.1E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.800 1.000 2 2016 2016
dbSNP: rs886037947
rs886037947 		1.000 1 46195879 missense variant C/T snv
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.800 1.000 2 2016 2016
dbSNP: rs886037948
rs886037948 		1.000 1 46192132 missense variant C/G;T snv
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.800 1.000 2 2016 2016
dbSNP: rs886037949
rs886037949 		1.000 1 46196073 missense variant A/C snv
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.800 1.000 2 2016 2016
dbSNP: rs386834024
rs386834024 		0.851 0.120 1 46189457 splice donor variant C/A;G;T snv 8.0E-05; 8.0E-06
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 5 2004 2017
dbSNP: rs190057175
rs190057175 		0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 4 2007 2013
dbSNP: rs28940869
rs28940869 		0.827 0.160 1 46192397 missense variant G/A snv 3.5E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 4 2004 2012
dbSNP: rs138642840
rs138642840 		0.851 0.120 1 46192097 splice donor variant C/A;T snv 6.2E-04
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 2 2001 2004
dbSNP: rs386834012
rs386834012 		0.925 0.120 1 46192438 splice acceptor variant T/C snv 4.0E-06
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 2 2004 2009
dbSNP: rs386834039
rs386834039 		0.851 0.120 1 46193874 stop gained G/A snv 7.0E-06
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 2 2006 2012
dbSNP: rs386834034
rs386834034 		0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 1.000 1 2012 2012
dbSNP: rs193919337
rs193919337 		0.925 0.120 1 46197018 stop gained G/A snv 1.4E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 0
dbSNP: rs267606960
rs267606960 		0.827 0.160 1 46192168 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 0