Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ×
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: rs1305542291
rs1305542291 		0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.800 0
dbSNP: rs1239725461
rs1239725461 		0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1395475624
rs1395475624 		0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1555447569
rs1555447569 		0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1555558169
rs1555558169 		0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0