Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0686377
Disease: CNS metastases
CNS metastases 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519805
rs1057519805 		1.000 0.040 15 66436839 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519805
rs1057519805 		1.000 0.040 15 66436839 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519822
rs1057519822 		0.925 0.080 15 66481818 missense variant T/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519822
rs1057519822 		0.925 0.080 15 66481818 missense variant T/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12050732
rs12050732 		1.000 0.120 15 66458277 intron variant A/C snv 0.20
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1284398161
rs1284398161 		1.000 15 66485125 missense variant T/A snv
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 1.000 1 2012 2012
dbSNP: rs1432441
rs1432441 		0.882 0.040 15 66426943 intron variant G/A snv 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1432441
rs1432441 		0.882 0.040 15 66426943 intron variant G/A snv 0.27
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1432441
rs1432441 		0.882 0.040 15 66426943 intron variant G/A snv 0.27
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1489477346
rs1489477346 		15 66387359 synonymous variant G/A snv 5.8E-06 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs7182853
rs7182853 		1.000 0.040 15 66469947 intron variant T/C snv 0.31
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs746354996
rs746354996 		15 66489734 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2019 2019