ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
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: rs137852829
rs137852829 		1.000 0.080 8 41672445 stop gained C/A;T snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852830
rs137852830 		1.000 0.080 8 41668498 stop gained C/T snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554522035
rs1554522035 		1.000 0.080 8 41668509 stop gained G/A snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554544862
rs1554544862 		1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554567249
rs1554567249 		1.000 0.080 8 41714256 splice acceptor variant T/G snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554578304
rs1554578304 		1.000 0.080 8 41725839 frameshift variant G/- del
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554627073
rs1554627073 		1.000 0.080 8 41797538 start lost T/C snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1563502820
rs1563502820 		1.000 0.080 8 41706211 stop gained G/A snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs183894680
rs183894680 		1.000 8 41797691 intron variant C/T snv 1.6E-02
CUI: C4017275
Disease: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs397514029
rs397514029 		1.000 0.080 8 41715734 frameshift variant -/G delins
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs77173848
rs77173848 		1.000 8 41797646 intron variant A/G snv 4.6E-02
CUI: C4017275
Disease: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205242
rs786205242 		1.000 8 41797610 5 prime UTR variant AC/- delins
CUI: C4017275
Disease: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205243
rs786205243 		0.925 0.080 8 41708992 intron variant C/T snv
CUI: C4017275
Disease: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205244
rs786205244 		1.000 8 41725834 frameshift variant ATGTGCAGGGCCGGGAGGCG/- delins
CUI: C4017275
Disease: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs137852831
rs137852831 		1.000 0.080 8 41661923 stop gained G/A snv 7.0E-06
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs140085544
rs140085544 		1.000 0.080 8 41716970 missense variant C/T snv 6.8E-04 1.0E-03
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1996 2000
dbSNP: rs777701149
rs777701149 		1.000 0.080 8 41684619 stop gained G/A snv 7.0E-06
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs786205243
rs786205243 		0.925 0.080 8 41708992 intron variant C/T snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs745525088
rs745525088 		8 41714203 missense variant C/G;T snv 4.8E-06; 2.4E-05
CUI: C0085625
Disease: Hypoalgesia
Hypoalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs748409227
rs748409227 		8 41708865 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs748409227
rs748409227 		8 41708865 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C0085625
Disease: Hypoalgesia
Hypoalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs10099197
rs10099197 		8 41796940 intron variant C/T snv 0.79
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1579274
rs1579274 		8 41801405 intron variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2010743
rs2010743 		8 41816411 intron variant T/A snv 0.80
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2032736
rs2032736 		8 41781748 intron variant C/A snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012