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: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Secondary malignant neoplasm of lymph node
0.100 0.800 60 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
0.100 0.800 10 2011 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 0.800 10 2011 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
0.100 0.800 10 2010 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 0.818 11 2007 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.100 0.842 19 2011 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 0.857 14 2010 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.770 0.875 8 2003 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027960
Disease: Nevus
Nevus
0.080 0.875 8 2004 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 0.875 8 2003 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 0.876 89 2003 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.090 0.889 9 2004 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Metastatic malignant neoplasm to brain
0.100 0.900 10 2012 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 0.907 43 2003 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.100 0.909 44 2003 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Childhood Langerhans Cell Histiocytosis
0.100 0.909 11 2013 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.100 0.909 11 2013 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
0.100 0.926 27 2011 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 0.927 41 2007 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.100 0.929 14 2008 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
0.100 0.929 14 2014 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 0.938 32 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1709457
Disease: Papillary Thyroid Microcarcinoma
Papillary Thyroid Microcarcinoma
0.100 0.938 16 2005 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 0.943 35 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 0.947 475 2003 2020