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: rs121917734
rs121917734 		1.000 0.080 15 43208769 missense variant C/T snv 4.0E-06
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 6 1992 1999
dbSNP: rs143682977
rs143682977 		1.000 0.080 15 43211532 missense variant C/A;G snv 1.6E-05; 4.0E-06
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 6 1992 1999
dbSNP: rs104894487
rs104894487 		1.000 0.080 15 43215191 missense variant C/T snv 5.2E-05 1.4E-05
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 1999
dbSNP: rs115998465
rs115998465 		1.000 0.080 15 43203237 stop gained C/A;G snv 4.0E-06
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs266257354
rs266257354 		1.000 0.080 15 43216289 frameshift variant C/- delins 7.0E-06
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs266257355
rs266257355 		1.000 0.080 15 43209273 splice donor variant C/T snv
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs515726211
rs515726211 		1.000 0.080 15 43209276 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs515726212
rs515726212 		1.000 0.080 15 43208749 missense variant G/A snv 8.0E-05 8.4E-05
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs515726213
rs515726213 		1.000 0.080 15 43208748 frameshift variant C/- del
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0