SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
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: rs121918647
rs121918647 		0.925 0.080 14 64767829 missense variant G/C snv
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918649
rs121918649 		0.925 0.080 14 64767808 missense variant A/C snv
CUI: C4016380
Disease: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL 		0.700 0
dbSNP: rs121918650
rs121918650 		1.000 0.080 14 64767691 missense variant C/G;T snv 1.6E-05
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918651
rs121918651 		1.000 14 64823094 start lost T/C snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1225539653
rs1225539653 		1.000 0.080 14 64767812 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs150471537
rs150471537 		1.000 14 64784333 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1555366592
rs1555366592 		1.000 0.080 14 64767686 frameshift variant -/AA delins
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0030232
Disease: Pallor
Pallor 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555367318
rs1555367318 		1.000 0.040 14 64770879 splice donor variant ACCTGGGCCTC/- delins
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555367359
rs1555367359 		1.000 14 64771060 stop gained G/A snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1555367789
rs1555367789 		1.000 14 64774392 splice region variant C/T snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1555369657
rs1555369657 		1.000 14 64787102 stop gained G/A snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1555371769
rs1555371769 		1.000 14 64801754 missense variant C/T snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs1566754467
rs1566754467 		1.000 0.080 14 64782493 stop gained C/A snv
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267607086
rs267607086 		1.000 14 64772867 stop gained G/A snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs786204766
rs786204766 		1.000 14 64794466 splice donor variant C/T snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs863223302
rs863223302 		1.000 0.080 14 64767300 splice region variant C/A snv
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs863223303
rs863223303 		1.000 0.080 14 64767745 frameshift variant -/TC delins
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs863223304
rs863223304 		1.000 14 64793751 frameshift variant G/- del
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 0
dbSNP: rs121918645
rs121918645 		1.000 0.080 14 64767725 missense variant C/G snv 8.0E-06 1.4E-05
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 4 1990 1995
dbSNP: rs121918647
rs121918647 		0.925 0.080 14 64767829 missense variant G/C snv
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 4 1990 1995