USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
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: rs111033382
rs111033382 		0.925 0.200 1 215759659 splice donor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
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: rs1414935620
rs1414935620 		0.925 0.200 1 215758594 splice donor variant C/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1419157426
rs1419157426 		1.000 1 215674892 missense variant C/A;T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs143521854
rs143521854 		0.925 0.200 1 216084879 splice acceptor variant T/C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1461319754
rs1461319754 		0.925 0.200 1 216084747 stop gained C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1484339054
rs1484339054 		0.925 0.200 1 216421950 frameshift variant A/- delins 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs151148854
rs151148854 		0.925 0.200 1 215675618 splice acceptor variant T/C snv 1.6E-05 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249290
rs1553249290 		0.925 0.200 1 215639154 splice donor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249294
rs1553249294 		0.925 0.200 1 215639164 frameshift variant TAGAGGT/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249311
rs1553249311 		0.925 0.200 1 215639239 splice acceptor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249452
rs1553249452 		0.925 0.200 1 215640611 frameshift variant CGCCCTCCGTCGGTTAACACGT/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553250050
rs1553250050 		0.925 0.200 1 215647520 splice donor variant A/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553250077
rs1553250077 		0.925 0.200 1 215647634 frameshift variant T/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553250150
rs1553250150 		0.925 0.200 1 215648527 splice donor variant C/G snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553250192
rs1553250192 		0.925 0.200 1 215648707 frameshift variant GT/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553250416
rs1553250416 		0.925 0.200 1 215650783 frameshift variant ATTCACTGCCCAGA/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252041
rs1553252041 		0.925 0.200 1 215671120 frameshift variant T/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252052
rs1553252052 		0.925 0.200 1 215671207 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252363
rs1553252363 		0.925 0.200 1 215674355 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252389
rs1553252389 		0.925 0.200 1 215674574 frameshift variant T/GAC delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252409
rs1553252409 		0.925 0.200 1 215674736 frameshift variant CTAA/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553252499
rs1553252499 		0.925 0.200 1 215675309 frameshift variant C/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
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: 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