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: 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: 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: rs1167814744
rs1167814744
1.000 0.080 17 44251478 missense variant G/A 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 0
dbSNP: rs121912742
rs121912742
1.000 0.080 17 44258512 stop gained 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 0
dbSNP: rs121912745
rs121912745
0.807 0.200 17 44255708 missense variant G/A;T snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555596072
rs1555596072
1.000 0.080 17 44257518 stop gained G/C snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555596165
rs1555596165
1.000 0.080 17 44257768 missense variant A/C snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555596757
rs1555596757
1.000 0.080 17 44259934 splice acceptor variant T/C snv
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906565
rs387906565
1.000 0.080 17 44262928 5 prime UTR variant C/T snv 2.1E-05
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906566
rs387906566
1.000 0.080 17 44251435 frameshift variant -/CATCTGGGTG delins
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45562031
rs45562031
0.925 0.120 17 44261625 missense variant C/T snv 1.0E-02 1.1E-02
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs56361140
rs56361140
1.000 0.080 17 44260441 stop gained G/A;C;T snv 4.0E-06; 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 0
dbSNP: rs772264078
rs772264078
1.000 0.080 17 44259347 splice region variant G/T snv 3.6E-05 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 0