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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs121913262
rs121913262 		4 54285925 inframe deletion GACATCATG/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913267
rs121913267 		4 54285928 inframe deletion ATCATGCATGAT/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269 		4 54285921 inframe deletion GAGACA/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1553906053
rs1553906053 		4 54285925 inframe deletion CATCATGCATGA/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs2307049
rs2307049 		4 54263987 3 prime UTR variant G/A snv 0.22 0.18
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.700 1.000 1 2013 2013
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: rs763576329
rs763576329 		1.000 0.040 4 54285959 missense variant G/A;C snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
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: rs121908586
rs121908586 		1.000 0.080 4 54274869 missense variant T/A;C snv
CUI: C1868000
Disease: Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121908587
rs121908587 		0.827 0.120 4 54278380 missense variant C/T snv
CUI: C4016331
Disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB 		0.700 0
dbSNP: rs121908589
rs121908589 		1.000 0.080 4 54274851 missense variant A/G snv
CUI: C1868000
Disease: Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal 		Digestive System Diseases; Neoplasms 0.700 0