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: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 7 1997 2015
dbSNP: rs121913668
rs121913668
MET
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 7 1997 2015
dbSNP: rs121913670
rs121913670
MET
0.925 0.120 7 116783329 missense variant G/A snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 7 1997 2015
dbSNP: rs121913673
rs121913673
MET
0.925 0.120 7 116782048 missense variant C/G;T snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 7 1997 2015
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: rs786202724
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1999 2013
dbSNP: rs121913244
rs121913244
MET
0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 5 1997 1999
dbSNP: rs121913245
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 5 1997 1999
dbSNP: rs121913247
rs121913247
MET
0.882 0.200 7 116783359 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 5 1997 1999
dbSNP: rs121913670
rs121913670
MET
0.925 0.120 7 116783329 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1997 2013
dbSNP: rs121913671
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 5 1997 1999
dbSNP: rs786202724
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 1.000 5 1997 1999
dbSNP: rs121913668
rs121913668
MET
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1997 2001
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: 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: 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: rs1057519824
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 2 2003 2007
dbSNP: rs121913244
rs121913244
MET
0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.700 1.000 2 2008 2014
dbSNP: rs121913245
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.700 1.000 2 2013 2014
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 2 2007 2017
dbSNP: rs121913246
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.700 1.000 2 2002 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: rs38855
rs38855
MET
7 116717990 intron variant A/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 2 2013 2017
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: C0007097
Disease: Carcinoma
Carcinoma 		0.700 1.000 1 2002 2002