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: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.946 465 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.981 452 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.100 0.956 367 2003 2019
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 0.969 196 2009 2019
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 175 2004 2020
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 175 2004 2020
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 175 2004 2020
dbSNP: rs7903146
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.953 160 2006 2020
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 0.980 153 1997 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.973 149 2004 2020
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0028754
Disease: Obesity
Obesity 		0.800 0.947 149 2007 2020
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 0.965 113 2010 2019
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.893 103 1997 2018
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.100 0.979 96 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.989 95 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.100 1.000 91 2004 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 0.875 88 2003 2019
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.800 0.943 85 2001 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.100 0.987 79 2003 2020
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.100 0.987 75 1998 2020
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.800 0.987 75 1998 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.100 0.986 72 2004 2019
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 0.957 70 1998 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.985 68 2002 2020
dbSNP: rs1344706
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 0.873 62 2008 2019