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: rs515071
rs515071 		1.000 0.080 8 41661944 splice region variant A/G;T snv 0.78
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 4 2012 2017
dbSNP: rs516946
rs516946 		1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.820 1.000 6 2012 2018
dbSNP: rs4737009
rs4737009 		1.000 0.080 8 41772887 intron variant G/A snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2017
dbSNP: rs508419
rs508419 		1.000 0.080 8 41665473 non coding transcript exon variant A/C;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs13266210
rs13266210 		8 41675996 intron variant A/G snv 0.21
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2016 2019
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: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2017 2019
dbSNP: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2017 2019
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: rs12550646
rs12550646 		8 41796022 intron variant T/G snv 0.22
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
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: rs149489081
rs149489081 		8 41732218 intron variant T/G snv 5.8E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs149489081
rs149489081 		8 41732218 intron variant T/G snv 5.8E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
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: rs1819953
rs1819953 		8 41808436 intron variant G/A snv 0.23
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs1819953
rs1819953 		8 41808436 intron variant G/A snv 0.23
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: 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
dbSNP: rs2111804
rs2111804 		8 41786748 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2111805
rs2111805 		8 41785939 intron variant G/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs33981001
rs33981001 		1.000 0.080 8 41655130 3 prime UTR variant GTGTGTGT/-;GT;GTGT;GTGTGT;GTGTGTGTGT;GTGTGTGTGTGT;GTGTGTGTGTGTGT;GTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGT delins 0.44
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34664882
rs34664882 		8 41686157 missense variant G/A snv 2.3E-02 2.1E-02
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs34664882
rs34664882 		8 41686157 missense variant G/A snv 2.3E-02 2.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs3758128
rs3758128 		8 41799848 intron variant G/A snv 0.85
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4466386
rs4466386 		8 41822335 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012