Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.060 1.000 6 2006 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 0.500 2 2005 2013
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.020 1.000 2 2005 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0002871
Disease: Anemia
Anemia
0.040 1.000 4 2006 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0740992
Disease: anemia hemoglobin
anemia hemoglobin
0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 1.000 9 2006 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0432412
Disease: Chromosome 8, trisomy
Chromosome 8, trisomy
0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia
0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 0.965 144 2005 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia
0.030 1.000 3 2005 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0009812
Disease: Constitutional Symptom
Constitutional Symptom
0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Disseminated eosinophilic collagen disease
0.010 1.000 1 2007 2007