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: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2003 2003
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 1998 1998
dbSNP: rs121913407
rs121913407
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 < 0.001 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.010 1.000 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma
0.010 1.000 1 2016 2016
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
Paranasal sinus teratocarcinosarcoma (type)
0.010 1.000 1 2017 2017
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma
0.010 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2018 2018
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2019 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 1998 1998
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 1.000 1 2015 2015
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 1.000 1 2015 2015
dbSNP: rs121913413
rs121913413
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1999 1999
dbSNP: rs1233296947
rs1233296947
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1233296947
rs1233296947
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2016 2016