Disease: Paragangliomas with Sensorineural Hearing Loss ×
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: rs587776647
rs587776647 		1.000 0.160 11 112094953 frameshift variant A/- del
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587776648
rs587776648 		0.882 0.200 11 112094824 frameshift variant GACT/- delins
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587782210
rs587782210 		0.882 0.200 11 112087959 stop gained C/A snv
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338847
rs80338847 		0.882 0.200 11 112094906 missense variant T/C;G snv
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854589
rs878854589 		0.882 0.200 11 112086916 frameshift variant -/C delins
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854590
rs878854590 		0.851 0.240 11 112088869 frameshift variant G/- delins
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854591
rs878854591 		0.882 0.200 11 112088938 frameshift variant C/- delins
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878854594
rs878854594 		1.000 0.160 11 112094851 stop gained C/T snv
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894302
rs104894302 		0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2000 2012
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2000 2015
dbSNP: rs104894309
rs104894309 		0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2002 2008
dbSNP: rs1306475361
rs1306475361 		0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2002 2010
dbSNP: rs1060503770
rs1060503770 		0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs876658477
rs876658477 		0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894307
rs104894307 		0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 2001 2012
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 10 2000 2015