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: rs3024713
rs3024713
13 113159007 intron variant G/A snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs3024737
rs3024737
13 113165471 intron variant A/G snv 1.3E-02
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
0.700 1.000 1 2017 2017
dbSNP: rs3024739
rs3024739
13 113165634 intron variant G/A snv 0.17
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs17882561
rs17882561
1.000 0.080 13 113165199 intron variant G/A snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3024718
rs3024718
13 113159539 intron variant A/G snv 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3024719
rs3024719
0.925 0.080 13 113159911 intron variant G/A;T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024719
rs3024719
0.925 0.080 13 113159911 intron variant G/A;T snv
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
0.925 0.080 13 113164394 intron variant A/C;T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
0.925 0.080 13 113164394 intron variant A/C;T snv
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
0.925 0.080 13 113164394 intron variant A/C;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3024735
rs3024735
0.925 0.080 13 113165199 intron variant G/A snv 0.19
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024735
rs3024735
0.925 0.080 13 113165199 intron variant G/A snv 0.19
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024772
rs3024772
13 113171786 missense variant G/A;C snv 2.4E-02; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3024778
rs3024778
13 113160151 stop gained G/A;C;T snv 4.0E-06; 2.0E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs494860
rs494860
1.000 0.120 13 113164695 intron variant T/A snv 0.26 0.19
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018