BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: RETINITIS PIGMENTOSA 74 ×
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: rs121908179
rs121908179 		0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.800 1.000 1 2015 2015
dbSNP: rs138043021
rs138043021 		0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.800 0
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs121908177
rs121908177 		0.882 0.120 16 56502790 stop gained G/A snv 1.9E-04 9.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs376306240
rs376306240 		1.000 16 56511229 missense variant G/C snv 3.2E-05 2.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs773862084
rs773862084 		0.882 0.120 16 56510858 splice donor variant C/A snv 9.9E-05 3.5E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs797045155
rs797045155 		1.000 16 56519765 missense variant G/C;T snv 8.1E-06
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0