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: 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: 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: rs763196530
rs763196530
MET
1.000 0.080 7 116699177 synonymous variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.070 1.000 7 2007 2014
dbSNP: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.030 1.000 3 2009 2010
dbSNP: rs38841
rs38841
MET
1.000 0.040 7 116679872 intron variant A/G snv 0.28
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2010 2010
dbSNP: rs38845
rs38845
MET
1.000 0.040 7 116681748 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2010 2010
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs34589476
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2006 2006
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2015 2015
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs34589476
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs374733251
rs374733251
MET
0.882 0.080 7 116740993 missense variant A/G snv 6.0E-05 7.7E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008
dbSNP: rs765771575
rs765771575
MET
0.882 0.080 7 116782017 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs765771575
rs765771575
MET
0.882 0.080 7 116782017 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs11762213
rs11762213
MET
0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 1.000 3 2013 2016
dbSNP: rs34589476
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2014 2014
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: rs38850
rs38850
MET
1.000 0.080 7 116697595 intron variant G/A snv 0.20
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2010 2010
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2005 2005
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: rs35225896
rs35225896
MET
7 116700032 missense variant A/G snv 1.6E-03 6.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2019 2019
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0879257
Disease: Hereditary Papillary Renal Carcinoma
Hereditary Papillary Renal Carcinoma 		0.010 1.000 1 1998 1998