Source: BEFREE

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: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
0.010 1.000 1 2003 2003
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1541316
Disease: Adult Giant Cell Glioblastoma
Adult Giant Cell Glioblastoma
0.040 1.000 4 2013 2016
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 1.000 7 2011 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma
0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.100 0.917 12 2013 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
Adult Malignant Peripheral Nerve Sheath Tumor
0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
0.030 1.000 3 2012 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 0.800 10 2011 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma
0.100 1.000 17 2012 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
0.100 1.000 13 2014 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.050 1.000 5 2006 2016
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
0.030 1.000 3 2004 2015
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0431112
Disease: Anaplastic ganglioglioma
Anaplastic ganglioglioma
0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma
0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
Anaplastic Pleomorphic Xanthoastrocytoma
0.050 1.000 5 2018 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 1.000 34 2006 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1510885
Disease: Angiogenic Switch
Angiogenic Switch
0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
0.030 1.000 3 2005 2008
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.010 1.000 1 2012 2012