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: rs7677751
rs7677751 		0.925 0.040 4 54258293 intron variant C/T snv 0.18
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		Eye Diseases 0.720 1.000 2 2011 2013
dbSNP: rs1800810
rs1800810 		1.000 0.080 4 54227864 intron variant C/A;G snv
CUI: C0155880
Disease: Intrinsic asthma
Intrinsic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1800812
rs1800812 		1.000 0.080 4 54228462 intron variant G/C;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800812
rs1800812 		1.000 0.080 4 54228462 intron variant G/C;T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800813
rs1800813 		4 54228300 intron variant G/A snv 0.21
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.800 1.000 1 2014 2014
dbSNP: rs6554162
rs6554162 		1.000 0.080 4 54227788 intron variant G/A snv 0.38
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs67388297
rs67388297 		4 54276524 intron variant C/G snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7660560
rs7660560 		4 54268227 intron variant G/A snv 0.18
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.700 1.000 1 2013 2013
dbSNP: rs7677751
rs7677751 		0.925 0.040 4 54258293 intron variant C/T snv 0.18
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.700 1.000 1 2013 2013
dbSNP: rs7677751
rs7677751 		0.925 0.040 4 54258293 intron variant C/T snv 0.18
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7678144
rs7678144 		1.000 0.040 4 54236258 intron variant T/C snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs121908585
rs121908585 		0.827 0.080 4 54285926 missense variant A/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.800 0.952 21 2003 2018
dbSNP: rs121908586
rs121908586 		1.000 0.080 4 54274869 missense variant T/A;C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.720 1.000 7 2003 2014
dbSNP: rs121908585
rs121908585 		0.827 0.080 4 54285926 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.060 0.833 6 2004 2019
dbSNP: rs121908587
rs121908587 		0.827 0.120 4 54278380 missense variant C/T snv
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2006 2014
dbSNP: rs1057519700
rs1057519700 		4 54277981 missense variant C/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.710 1.000 3 2003 2006
dbSNP: rs121913264
rs121913264 		4 54285925 missense variant GA/AT mnv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2006 2014
dbSNP: rs121908587
rs121908587 		0.827 0.120 4 54278380 missense variant C/T snv
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2014
dbSNP: rs121913265
rs121913265 		4 54285925 missense variant G/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs756581500
rs756581500 		4 54290319 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2013
dbSNP: rs969139366
rs969139366 		4 54277974 missense variant T/C snv 3.5E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2017
dbSNP: rs1057519811
rs1057519811 		1.000 0.040 4 54274916 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519812
rs1057519812 		1.000 0.040 4 54277977 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519813
rs1057519813 		1.000 0.040 4 54285923 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519814
rs1057519814 		1.000 0.040 4 54285934 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013