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: 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: rs121918646
rs121918646 		1.000 14 64801797 missense variant A/G snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.800 1.000 2 1993 2009
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: rs11851199
rs11851199 		14 64789470 intron variant A/G snv 6.5E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
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
dbSNP: rs121918648
rs121918648 		0.925 0.080 14 64767827 missense variant A/G snv
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 1.000 2 1995 1996
dbSNP: rs11158559
rs11158559 		14 64774231 intron variant C/G;T snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
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: rs1271040
rs1271040 		14 64798967 intron variant A/C;G snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs1271040
rs1271040 		14 64798967 intron variant A/C;G snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
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: rs1555370967
rs1555370967 		1.000 14 64796560 frameshift variant CACGAGGC/- delins
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 1.000 1 1998 1998
dbSNP: rs1741464
rs1741464 		14 64813358 intron variant C/A snv 0.39
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs17767662
rs17767662 		14 64814106 intron variant C/T snv 0.31
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs17767662
rs17767662 		14 64814106 intron variant C/T snv 0.31
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs200386310
rs200386310 		1.000 14 64772678 stop gained C/A;T snv 1.0E-04; 1.2E-05
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 1.000 1 2001 2001
dbSNP: rs2285002
rs2285002 		14 64816958 intron variant G/A snv 0.33
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs2285002
rs2285002 		14 64816958 intron variant G/A snv 0.33
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
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: 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