CDAN1, codanin 1, 146059

N. diseases: 77; N. variants: 15
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: rs80338696
rs80338696 		1.000 0.080 15 42730632 missense variant G/A snv 7.6E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 3 2002 2012
dbSNP: rs120074166
rs120074166 		1.000 0.080 15 42731275 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs120074167
rs120074167 		1.000 0.080 15 42730757 missense variant G/A snv 8.4E-05 1.3E-04
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs120074168
rs120074168 		1.000 0.080 15 42729066 missense variant A/T snv
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs80338697
rs80338697 		0.925 0.120 15 42726390 missense variant G/A;C;T snv 9.1E-06; 1.8E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs80338699
rs80338699 		0.925 0.080 15 42725550 missense variant G/A snv 1.6E-05 6.3E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs138334226
rs138334226 		1.000 0.080 15 42730599 missense variant G/A;C snv 7.2E-05; 1.2E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2006 2018
dbSNP: rs112968809
rs112968809 		1.000 0.040 15 42738205 upstream gene variant C/A;G;T snv
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs12594483
rs12594483 		1.000 0.040 15 42729788 splice region variant G/A;C snv 0.21
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs16957091
rs16957091 		15 42725228 synonymous variant T/A;C;G snv 4.0E-06; 0.29
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs16957091
rs16957091 		15 42725228 synonymous variant T/A;C;G snv 4.0E-06; 0.29
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs370895637
rs370895637 		1.000 0.080 15 42729063 missense variant C/G;T snv 1.6E-05; 2.8E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs80338698
rs80338698 		1.000 0.080 15 42726386 missense variant T/A;G snv 1.3E-05; 4.5E-06
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs113313967
rs113313967 		1.000 0.080 15 42731206 splice region variant C/T snv 2.1E-04 5.0E-04
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs120074169
rs120074169 		1.000 0.080 15 42735117 inframe deletion AAC/- del
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs80338694
rs80338694 		1.000 0.080 15 42736715 missense variant G/A;C snv 9.4E-05
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs80338697
rs80338697 		0.925 0.120 15 42726390 missense variant G/A;C;T snv 9.1E-06; 1.8E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80338699
rs80338699 		0.925 0.080 15 42725550 missense variant G/A snv 1.6E-05 6.3E-05
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