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: rs2244012
rs2244012 		1.000 0.080 5 132565533 intron variant A/G snv 0.33
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.820 1.000 3 2010 2016
dbSNP: rs6871536
rs6871536 		0.827 0.160 5 132634182 intron variant T/C snv 0.24
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.710 1.000 4 2010 2016
dbSNP: rs760146707
rs760146707 		1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2003 2015
dbSNP: rs121912628
rs121912628 		1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2009 2017
dbSNP: rs149201802
rs149201802 		1.000 0.200 5 132594950 stop gained C/G;T snv 8.0E-05; 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2008 2016
dbSNP: rs760146707
rs760146707 		1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2003 2015
dbSNP: rs876658770
rs876658770 		5 132640768 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2000 2015
dbSNP: rs876659654
rs876659654 		5 132642212 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2007 2014
dbSNP: rs1060501933
rs1060501933 		5 132642195 stop gained C/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2000 2015
dbSNP: rs1236278956
rs1236278956 		5 132579861 splice acceptor variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2006 2014
dbSNP: rs1554098706
rs1554098706 		5 132595758 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs377260382
rs377260382 		5 132557327 start lost G/A snv 4.8E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1999 2015
dbSNP: rs1060501949
rs1060501949 		5 132609340 frameshift variant AAAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs1235022794
rs1235022794 		5 132591397 splice donor variant ACAAAG/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs1339714611
rs1339714611 		5 132557454 splice donor variant G/T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs149201802
rs149201802 		1.000 0.200 5 132594950 stop gained C/G;T snv 8.0E-05; 5.6E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2008 2015
dbSNP: rs151131414
rs151131414 		5 132638080 splice acceptor variant G/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs1554098466
rs1554098466 		5 132591875 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs1561628206
rs1561628206 		5 132559282 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs397507178
rs397507178 		1.000 0.200 5 132595760 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2016
dbSNP: rs587781327
rs587781327 		5 132589653 frameshift variant CT/- delins 4.2E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs587781625
rs587781625 		5 132557417 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs587781742
rs587781742 		1.000 0.120 5 132594868 splice acceptor variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs748086984
rs748086984 		5 132557455 splice donor variant T/A snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009
dbSNP: rs761168506
rs761168506 		5 132637202 splice donor variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2009