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: 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: 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: rs3215645
rs3215645 		14 64796872 intron variant -/T delins 0.44
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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
dbSNP: rs121918648
rs121918648 		0.925 0.080 14 64767827 missense variant A/G snv
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1990 1995
dbSNP: rs121918649
rs121918649 		0.925 0.080 14 64767808 missense variant A/C snv
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1990 1995
dbSNP: rs367841692
rs367841692 		1.000 0.080 14 64767814 missense variant G/A;T snv 4.8E-05; 4.0E-06
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1990 1995
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: 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: 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: 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: rs147598882
rs147598882 		14 64880398 upstream gene variant G/C snv 1.4E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
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: 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: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 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: 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: rs11158559
rs11158559 		14 64774231 intron variant C/G;T snv
CUI: C1295176
Disease: Leptin measurement
Leptin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs229614
rs229614 		0.925 0.080 14 64828210 intron variant G/A snv 0.12
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
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: rs11158559
rs11158559 		14 64774231 intron variant C/G;T snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs229614
rs229614 		0.925 0.080 14 64828210 intron variant G/A snv 0.12
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11851199
rs11851199 		14 64789470 intron variant A/G snv 6.5E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017