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: 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: rs1858830
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.030 1.000 3 2009 2014
dbSNP: rs40239
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs40239
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs40239
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2014 2014
dbSNP: rs40239
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 < 0.001 1 2019 2019
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: 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: 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: 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: rs11762213
rs11762213
MET
0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs55985569
rs55985569
MET
0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2003 2005
dbSNP: rs55985569
rs55985569
MET
0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs55985569
rs55985569
MET
0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2003 2003
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: 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
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
MET
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2013 2013