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: rs112329286
rs112329286 		1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs112329286
rs112329286 		1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs112329286
rs112329286 		1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs112329286
rs112329286 		1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs1152591
rs1152591 		1.000 0.080 14 64214130 intron variant A/C;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 2 2012 2017
dbSNP: rs2738413
rs2738413 		1.000 0.080 14 64213242 intron variant A/G snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs8008068
rs8008068 		14 63766999 intron variant A/G snv 0.23
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs8008068
rs8008068 		14 63766999 intron variant A/G snv 0.23
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
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: rs8008070
rs8008070 		1.000 0.080 14 63767002 intron variant A/T snv 0.23
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs8008070
rs8008070 		1.000 0.080 14 63767002 intron variant A/T snv 0.23
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs36215895
rs36215895 		1.000 14 64210033 missense variant C/G;T snv 4.0E-06; 4.8E-03
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.800 1.000 1 2007 2007
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: rs148114281
rs148114281 		14 64160241 intron variant C/T snv 1.6E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
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: rs2357176
rs2357176 		0.882 0.080 14 63942595 intron variant G/A snv 0.68
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2357176
rs2357176 		0.882 0.080 14 63942595 intron variant G/A snv 0.68
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2357176
rs2357176 		0.882 0.080 14 63942595 intron variant G/A snv 0.68
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2772163
rs2772163 		14 64226667 intron variant G/A snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2781377
rs2781377 		1.000 0.040 14 64093374 stop gained G/A snv 8.5E-02 8.9E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7160525
rs7160525 		1.000 0.080 14 63765502 intron variant G/A snv 0.23
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7160525
rs7160525 		1.000 0.080 14 63765502 intron variant G/A snv 0.23
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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: rs10873172
rs10873172 		14 63923312 intron variant G/C snv 0.68
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018