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: rs121912741
rs121912741
1.000 0.080 17 44251588 missense variant C/T snv 7.0E-06
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs121912749
rs121912749
1.000 0.080 17 44260501 missense variant C/T snv 1.4E-04 4.2E-05
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs121912750
rs121912750
1.000 0.080 17 44251305 missense variant T/C snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs121912755
rs121912755
0.925 0.080 17 44253150 missense variant C/T snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs28931583
rs28931583
1.000 0.080 17 44258520 missense variant G/A;C;T snv 2.3E-04
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs28931584
rs28931584
0.925 0.200 17 44257514 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs28931585
rs28931585
1.000 0.080 17 44251206 missense variant G/A;T snv 1.2E-05
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2005
dbSNP: rs121912748
rs121912748
0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 1998 2004
dbSNP: rs121912754
rs121912754
0.882 0.200 17 44255292 missense variant C/G;T snv
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 1998 2004
dbSNP: rs863225461
rs863225461
1.000 0.040 17 44253238 missense variant A/G snv
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.800 1.000 1 2005 2005
dbSNP: rs863225462
rs863225462
1.000 0.040 17 44253228 missense variant T/C snv
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.800 1.000 1 2005 2005
dbSNP: rs863225463
rs863225463
1.000 0.040 17 44253369 missense variant A/G snv
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.800 1.000 1 2005 2005
dbSNP: rs866727908
rs866727908
1.000 0.080 17 44251477 missense variant C/T snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs28929480
rs28929480
1.000 0.080 17 44260716 missense variant C/T snv 2.4E-05 1.3E-04
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs121912744
rs121912744
1.000 0.160 17 44255707 missense variant C/T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.750 1.000 5 1998 2008
dbSNP: rs121912751
rs121912751
0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.740 0.750 4 2006 2010
dbSNP: rs121912745
rs121912745
0.807 0.200 17 44255708 missense variant G/A;T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2003 2003
dbSNP: rs121912746
rs121912746
1.000 0.160 17 44255259 missense variant G/A snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2006 2006
dbSNP: rs878853002
rs878853002
1.000 0.160 17 44255272 missense variant C/T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1398477044
rs1398477044
1.000 0.080 17 44257508 missense variant G/A snv 7.0E-06
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 15 1992 2005
dbSNP: rs373916826
rs373916826
1.000 0.080 17 44253151 missense variant G/A;T snv 4.0E-06
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 15 1992 2005
dbSNP: rs868742796
rs868742796
1.000 0.080 17 44257424 missense variant G/A snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 15 1992 2005
dbSNP: rs2857078
rs2857078
17 44252803 intron variant A/C snv 0.62
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs2857078
rs2857078
17 44252803 intron variant A/C snv 0.62
RDW - Red blood cell distribution width result
0.700 1.000 2 2016 2019
dbSNP: rs121912753
rs121912753
0.827 0.200 17 44251583 missense variant A/G snv
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2004 2004