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: rs915057
rs915057 		1.000 0.040 14 64219489 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs745516407
rs745516407 		1.000 14 64107608 splice donor variant G/A;T snv 4.0E-06 7.0E-06
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1152582
rs1152582 		1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs12434245
rs12434245 		1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1268656
rs1268656 		0.925 0.040 14 64180928 intron variant T/G snv 0.12
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1268656
rs1268656 		0.925 0.040 14 64180928 intron variant T/G snv 0.12
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs758858068
rs758858068 		1.000 0.040 14 64225321 missense variant T/A;C;G snv 3.2E-05; 4.0E-06
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs763585589
rs763585589 		1.000 0.040 14 64219304 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8021944
rs8021944 		14 64212580 intron variant T/G snv 5.6E-02
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013