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: rs587776646
rs587776646 		1.000 0.160 11 112094931 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: 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: rs1060503773
rs1060503773 		0.925 0.160 11 112094882 frameshift variant T/- 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: rs1050032491
rs1050032491 		0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-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 3 2001 2012
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/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 1.000 9 2001 2016
dbSNP: rs587776645
rs587776645 		1.000 0.160 11 112094827 frameshift variant -/T ins
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: rs1555187583
rs1555187583 		1.000 0.160 11 112094825 frameshift variant -/T 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: 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: 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: rs1555187574
rs1555187574 		1.000 0.160 11 112094807 missense variant G/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: rs1060503769
rs1060503769 		0.925 0.160 11 112094805 stop gained G/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: rs1555187083
rs1555187083 		0.851 0.240 11 112089012 splice donor variant G/A;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 1.000 1 2006 2006
dbSNP: rs1131691065
rs1131691065 		0.882 0.200 11 112089011 stop gained G/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 1.000 1 2013 2013
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: rs1555187067
rs1555187067 		1.000 0.160 11 112088995 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: rs121908983
rs121908983 		1.000 0.160 11 112088974 inframe insertion ATT/-;ATTATT 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: rs80338845
rs80338845 		0.807 0.240 11 112088971 missense variant G/T snv 7.0E-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 3 2010 2015
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
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: rs387906358
rs387906358 		0.851 0.200 11 112088884 frameshift variant TC/- 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 1.000 4 2001 2013
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: 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