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: rs10445033
rs10445033 		16 88774054 intron variant G/A snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2019
dbSNP: rs2608604
rs2608604 		16 88783013 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2017
dbSNP: rs587776991
rs587776991 		1.000 0.200 16 88719665 missense variant G/A snv 3.7E-05 3.5E-05
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2013 2013
dbSNP: rs587776987
rs587776987 		1.000 0.200 16 88716885 missense variant A/C snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs587776988
rs587776988 		1.000 0.200 16 88715804 missense variant C/T snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs587776989
rs587776989 		1.000 0.200 16 88720175 missense variant C/T snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs587776990
rs587776990 		1.000 0.200 16 88725505 missense variant C/G snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs200970763
rs200970763 		1.000 0.200 16 88733731 missense variant C/A;T snv 3.8E-03
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2012 2014
dbSNP: rs587777764
rs587777764 		1.000 0.200 16 88720174 missense variant G/A snv
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2012 2014
dbSNP: rs587777765
rs587777765 		1.000 0.200 16 88727144 missense variant G/A snv 1.3E-05
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2012 2014
dbSNP: rs2911463
rs2911463 		1.000 0.040 16 88769137 intron variant G/A;C snv
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.700 1.000 2 2018 2019
dbSNP: rs10775348
rs10775348 		16 88739940 non coding transcript exon variant A/G snv 0.78
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs111350029
rs111350029 		16 88730362 intron variant -/AGGCGG delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs201226914
rs201226914 		1.000 16 88732511 missense variant G/T snv 1.0E-03 1.1E-03
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 1.000 1 2015 2015
dbSNP: rs202099525
rs202099525 		16 88721629 missense variant G/A snv 4.4E-04 4.7E-04
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs2926772
rs2926772 		16 88785260 upstream gene variant T/C;G snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2932690
rs2932690 		16 88776545 intron variant G/A snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4238686
rs4238686 		16 88722526 non coding transcript exon variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs4238686
rs4238686 		16 88722526 non coding transcript exon variant A/C;G snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs475596
rs475596 		16 88780543 intron variant G/C snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs562212325
rs562212325 		16 88718246 non coding transcript exon variant G/C snv 1.1E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs567292015
rs567292015 		16 88732112 intron variant G/- delins 4.6E-03
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs567292015
rs567292015 		16 88732112 intron variant G/- delins 4.6E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs57258486
rs57258486 		16 88781330 intron variant G/A snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs577860843
rs577860843 		1.000 16 88715799 missense variant A/G snv 9.0E-05 7.0E-06
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 1.000 1 2015 2015