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: rs34589476
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.730 1.000 3 2003 2014
dbSNP: rs56391007
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.720 1.000 2 2003 2015
dbSNP: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2003 2007
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2007 2017
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: rs11762213
rs11762213
MET
0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 1.000 3 2013 2016
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: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 1.000 2 2005 2009
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: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
0.020 1.000 2 2000 2002
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: 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