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: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C 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 11 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: rs104894306
rs104894306 		0.882 0.200 11 112087868 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 1.000 7 2001 2012
dbSNP: rs104894308
rs104894308 		0.882 0.200 11 112087933 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 6 2002 2010
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: 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: 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: rs1566691921
rs1566691921 		0.882 0.200 11 112087856 splice acceptor variant GC/TT mnv
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 2009 2010
dbSNP: rs397514034
rs397514034 		0.882 0.200 11 112087896 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 2 2001 2009
dbSNP: rs104894305
rs104894305 		0.851 0.240 11 112087899 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 1.000 1 2013 2013
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: 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: rs587776649
rs587776649 		0.851 0.240 11 112087861 frameshift variant G/- 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 1.000 1 2008 2008
dbSNP: rs104894303
rs104894303 		1.000 0.160 11 112087910 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: 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: 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: 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: rs1555186662
rs1555186662 		1.000 0.160 11 112086924 frameshift variant GCTG/- 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: 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: 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: 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: rs1566690018
rs1566690018 		0.882 0.200 11 112086920 frameshift variant TG/- 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: rs587776644
rs587776644 		1.000 0.160 11 112086961 splice donor variant T/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: 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: 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