Disease: RETINITIS PIGMENTOSA 49 ×
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: rs62625014
rs62625014 		0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.800 1.000 2 1995 2004
dbSNP: rs527236058
rs527236058 		0.925 0.080 4 47951398 frameshift variant C/- delins 2.0E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 1.000 2 1995 2014
dbSNP: rs749012133
rs749012133 		1.000 4 47949867 frameshift variant G/- del 1.1E-04 3.5E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 1.000 2 1995 2013
dbSNP: rs121909599
rs121909599 		1.000 4 47949894 stop gained C/A;T snv 1.2E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0
dbSNP: rs121909600
rs121909600 		1.000 4 47943203 stop gained T/A snv
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0
dbSNP: rs199636364
rs199636364 		0.882 0.080 4 47952608 stop gained G/A snv 7.2E-05 6.3E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0