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: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.100 1.000 91 2004 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 0.876 89 2003 2019
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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.100 0.988 83 2003 2020
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 0.901 81 2003 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: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 0.872 78 2003 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 0.909 77 2003 2020
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.100 0.908 76 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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.100 0.986 74 2004 2019
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: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.100 0.944 72 2005 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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.986 69 2002 2020
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.949 69 2001 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: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.970 67 1999 2020
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.900 0.988 63 1997 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
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.933 60 2009 2019
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.933 60 2009 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.100 0.800 60 2004 2019