Disease: PARAGANGLIOMAS 4 ×
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: rs1060503752
rs1060503752 		0.925 0.080 1 17023994 frameshift variant CA/- del
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503753
rs1060503753 		0.925 0.080 1 17027790 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503759
rs1060503759 		0.925 0.080 1 17024013 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503762
rs1060503762 		0.925 0.080 1 17044820 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503763
rs1060503763 		0.925 0.080 1 17027848 stop gained A/C snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503767
rs1060503767 		1.000 0.080 1 17053997 frameshift variant AG/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691061
rs1131691061 		0.827 0.280 1 17054017 start lost C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553176976
rs1553176976 		0.925 0.080 1 17018936 frameshift variant -/AGCT delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553176979
rs1553176979 		0.925 0.080 1 17018938 frameshift variant -/C ins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177285
rs1553177285 		1.000 0.080 1 17022676 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177436
rs1553177436 		0.925 0.080 1 17024007 frameshift variant C/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177666
rs1553177666 		1.000 0.080 1 17027736 splice donor variant GGACTAATGACCAG/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177667
rs1553177667 		1.000 0.080 1 17027748 splice donor variant C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177676
rs1553177676 		0.925 0.080 1 17027784 stop gained G/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553177677
rs1553177677 		1.000 0.080 1 17027787 stop gained G/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553178726
rs1553178726 		0.925 0.080 1 17044756 splice region variant C/G snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553178729
rs1553178729 		1.000 0.080 1 17044771 frameshift variant C/- del
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1557738304
rs1557738304 		0.925 0.080 1 17018943 frameshift variant -/C delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1557741425
rs1557741425 		0.925 0.080 1 17028623 frameshift variant -/C delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587781266
rs587781266 		0.925 0.080 1 17022654 frameshift variant GAGA/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587782617
rs587782617 		0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs74315369
rs74315369 		0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs778952116
rs778952116 		0.925 0.080 1 17028736 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786202732
rs786202732 		0.882 0.080 1 17024041 missense variant A/G snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0