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: rs10215153
rs10215153
MET
1.000 0.040 7 116759077 intron variant G/A snv 0.32
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.010 1.000 1 2014 2014
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 1.000 1 2005 2005
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma
0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx)
0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
Squamous cell carcinoma of the head and neck
0.010 1.000 1 2009 2009
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx
0.010 1.000 1 2003 2003
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.010 1.000 1 1998 1998
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
Hereditary Papillary Renal Carcinoma
0.010 1.000 1 1998 1998
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
0.010 1.000 1 2002 2002
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247
MET
0.882 0.200 7 116783359 missense variant T/C snv
Secondary malignant neoplasm of liver
0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247
MET
0.882 0.200 7 116783359 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs121913668
rs121913668
MET
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
0.010 1.000 1 2002 2002
dbSNP: rs121913671
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs121913673
rs121913673
MET
0.925 0.120 7 116782048 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs1395763398
rs1395763398
MET
0.925 0.040 7 116795891 missense variant G/A snv 4.0E-06
Metastatic Malignant Neoplasm to the Leptomeninges
0.010 1.000 1 2009 2009
dbSNP: rs1395763398
rs1395763398
MET
0.925 0.040 7 116795891 missense variant G/A snv 4.0E-06
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
0.010 1.000 1 2009 2009
dbSNP: rs1621
rs1621
MET
0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 1.000 1 2010 2010
dbSNP: rs1621
rs1621
MET
0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs17138945
rs17138945
MET
1.000 0.040 7 116703812 intron variant T/G snv 7.3E-02
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2018 2018
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2005 2005
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 < 0.001 1 2013 2013