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: rs121918221
rs121918221 		0.925 0.080 20 18515695 missense variant G/A snv 2.3E-04 2.3E-04
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 7 2009 2014
dbSNP: rs727504145
rs727504145 		1.000 0.080 20 18542380 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 5 2009 2013
dbSNP: rs121918222
rs121918222 		0.882 0.080 20 18510875 missense variant C/T snv 2.3E-04 1.7E-04
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 4 2009 2011
dbSNP: rs121918223
rs121918223 		1.000 0.080 20 18543095 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs752366963
rs752366963 		1.000 20 18548646 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7 		0.800 0
dbSNP: rs121918221
rs121918221 		0.925 0.080 20 18515695 missense variant G/A snv 2.3E-04 2.3E-04
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7 		0.700 1.000 6 2009 2014
dbSNP: rs121918222
rs121918222 		0.882 0.080 20 18510875 missense variant C/T snv 2.3E-04 1.7E-04
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.700 1.000 4 2009 2011
dbSNP: rs398124226
rs398124226 		0.925 0.080 20 18525021 splice donor variant G/A;C snv 2.4E-05; 8.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2009 2014
dbSNP: rs398124226
rs398124226 		0.925 0.080 20 18525021 splice donor variant G/A;C snv 2.4E-05; 8.0E-06
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2009 2014
dbSNP: rs201270568
rs201270568 		1.000 0.080 20 18554343 missense variant C/T snv 4.8E-05 4.9E-05
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2009
dbSNP: rs1555789463
rs1555789463 		0.925 0.080 20 18535747 splice region variant G/A snv
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1555789463
rs1555789463 		0.925 0.080 20 18535747 splice region variant G/A snv
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 1.000 1 2013 2013
dbSNP: rs36023150
rs36023150 		1.000 20 18524556 missense variant G/A;T snv 1.1E-02
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7 		0.700 1.000 1 2015 2015
dbSNP: rs121918224
rs121918224 		1.000 0.080 20 18525888 stop gained C/T snv 1.6E-05 2.8E-05
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918225
rs121918225 		1.000 0.080 20 18526508 stop gained C/T snv 3.6E-05 3.5E-05
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918226
rs121918226 		1.000 0.080 20 18524980 stop gained C/T snv 5.2E-05 1.3E-04
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555788144
rs1555788144 		1.000 0.080 20 18524642 frameshift variant CAAGGATT/A delins
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568606490
rs1568606490 		0.925 0.080 20 18525913 frameshift variant T/- delins
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568606490
rs1568606490 		0.925 0.080 20 18525913 frameshift variant T/- delins
CUI: C1869116
Disease: ASTHMA, SUSCEPTIBILITY TO (finding)
ASTHMA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs1568617456
rs1568617456 		0.925 0.240 20 18542398 stop gained C/T snv
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568617456
rs1568617456 		0.925 0.240 20 18542398 stop gained C/T snv
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121918222
rs121918222 		0.882 0.080 20 18510875 missense variant C/T snv 2.3E-04 1.7E-04
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs750888081
rs750888081 		1.000 0.080 20 18526476 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs752366963
rs752366963 		1.000 20 18548646 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2015 2015