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: rs1057519718
rs1057519718
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2002 2010
dbSNP: rs1057519718
rs1057519718
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2011 2011
dbSNP: rs1057519719
rs1057519719
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.700 1.000 8 2002 2013
dbSNP: rs1057519719
rs1057519719
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.700 1.000 9 2002 2013
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2005 2014
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 1.000 1 2013 2013
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma
0.010 1.000 1 2013 2013
dbSNP: rs1131692058
rs1131692058
1.000 0.080 7 140734769 splice acceptor variant TCTACA/- delins
Familial Hypertrophic Cardiomyopathy Type 4
0.700 0
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.979 477 2002 2020
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
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 0.959 387 2003 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.975 160 2004 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 0.980 98 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 0.990 98 2002 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 1.000 91 2004 2020
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 0.988 83 2003 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 0.986 74 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 0.986 69 2002 2020
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
Malignant neoplasm of colon and/or rectum
0.100 0.980 51 2005 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 0.979 48 2011 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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 0.907 43 2003 2019