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: rs121434606
rs121434606 		1.000 0.320 11 114250382 missense variant A/G snv
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs1784692
rs1784692 		1.000 0.120 11 114078510 intron variant T/C snv 0.17
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2015 2018
dbSNP: rs648044
rs648044 		0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs648044
rs648044 		0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 2 2015 2017
dbSNP: rs1672691
rs1672691 		1.000 0.080 11 114071429 intron variant C/T snv 0.19
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17116384
rs17116384 		11 114110519 intron variant A/G snv 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs17116384
rs17116384 		11 114110519 intron variant A/G snv 0.25
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17116384
rs17116384 		11 114110519 intron variant A/G snv 0.25
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs238913
rs238913 		11 114113767 intron variant A/G snv 0.46
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs238914
rs238914 		11 114113387 intron variant C/A snv 0.45
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914 		11 114113387 intron variant C/A snv 0.45
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914 		11 114113387 intron variant C/A snv 0.45
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914 		11 114113387 intron variant C/A snv 0.45
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914 		11 114113387 intron variant C/A snv 0.45
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630 		11 114086475 intron variant G/A snv 0.35
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630 		11 114086475 intron variant G/A snv 0.35
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630 		11 114086475 intron variant G/A snv 0.35
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630 		11 114086475 intron variant G/A snv 0.35
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630 		11 114086475 intron variant G/A snv 0.35
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs3782000
rs3782000 		1.000 0.040 11 114202153 intron variant C/T snv 0.18
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs513249
rs513249 		11 114161870 intron variant T/A snv 0.38
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs636406
rs636406 		11 114160370 non coding transcript exon variant C/G snv 0.48
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs73000929
rs73000929 		11 114082900 intron variant G/A;T snv 2.1E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs73000929
rs73000929 		11 114082900 intron variant G/A;T snv 2.1E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs73000965
rs73000965 		11 114111599 intron variant T/A;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016