SPTA1, spectrin alpha, erythrocytic 1, 6708

N. diseases: 76; N. variants: 71
Disease: ELLIPTOCYTOSIS 2 (disorder) ×
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: rs121918634
rs121918634 		1.000 0.080 1 158678434 missense variant A/C;G snv 8.0E-06; 1.2E-05
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918635
rs121918635 		1.000 0.080 1 158672135 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918636
rs121918636 		1.000 0.080 1 158678432 missense variant A/G snv 4.0E-06 2.8E-05
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918637
rs121918637 		0.925 0.080 1 158685237 missense variant C/A snv
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918638
rs121918638 		1.000 0.080 1 158685235 missense variant C/A snv 8.1E-06
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918639
rs121918639 		1.000 0.080 1 158685227 missense variant G/A snv
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918640
rs121918640 		1.000 0.080 1 158685251 missense variant G/A;T snv 8.1E-06; 1.3E-04
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918641
rs121918641 		0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918642
rs121918642 		0.925 0.080 1 158685290 missense variant G/A;T snv
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs121918643
rs121918643 		0.925 0.080 1 158680641 missense variant A/G snv 6.4E-05 1.8E-04
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 12 1989 1995
dbSNP: rs201568233
rs201568233 		1.000 0.080 1 158685272 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 12 1989 1995
dbSNP: rs199725919
rs199725919 		1.000 0.080 1 158681606 missense variant C/T snv 2.0E-04 1.6E-04
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs7418956
rs7418956 		1.000 0.080 1 158662793 missense variant G/A;T snv 4.0E-06; 3.6E-03
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs757679761
rs757679761 		1.000 0.080 1 158681595 inframe insertion -/AAC delins 7.6E-05 3.3E-04
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs773826036
rs773826036 		1.000 0.080 1 158685280 missense variant A/G snv 4.1E-06
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs863223305
rs863223305 		1.000 0.080 1 158661410 splice acceptor variant C/T snv
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0