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: rs1554689313
rs1554689313 		1.000 9 98306231 missense variant C/T snv
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.800 1.000 3 2016 2018
dbSNP: rs1554689315
rs1554689315 		1.000 9 98306236 missense variant A/T snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018
dbSNP: rs1554689319
rs1554689319 		1.000 9 98306266 missense variant C/A snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018
dbSNP: rs1554689320
rs1554689320 		1.000 9 98306273 missense variant C/A snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018
dbSNP: rs922847767
rs922847767 		0.925 0.080 9 98371535 missense variant C/T snv
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.800 0
dbSNP: rs10120452
rs10120452 		9 98623959 intron variant G/A snv 0.17
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs10122943
rs10122943 		0.925 0.040 9 98400981 intron variant C/T snv 6.3E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs10122943
rs10122943 		0.925 0.040 9 98400981 intron variant C/T snv 6.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10818782
rs10818782 		9 98325004 intron variant G/A snv 0.60
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10818782
rs10818782 		9 98325004 intron variant G/A snv 0.60
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10986018
rs10986018 		9 98361054 intron variant T/C snv 7.9E-02
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.700 1.000 1 2009 2009
dbSNP: rs10986018
rs10986018 		9 98361054 intron variant T/C snv 7.9E-02
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.700 1.000 1 2009 2009
dbSNP: rs16914811
rs16914811 		1.000 0.040 9 98314345 intron variant G/A snv 0.15
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs16914931
rs16914931 		9 98330034 intron variant G/A snv 0.10
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		0.700 1.000 1 2014 2014
dbSNP: rs337527
rs337527 		1.000 0.120 9 98685681 intron variant T/C snv 3.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3824451
rs3824451 		1.000 0.040 9 98309240 intron variant T/C snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs922847767
rs922847767 		0.925 0.080 9 98371535 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs2184026
rs2184026 		1.000 0.080 9 98542066 intron variant C/G;T snv 0.25
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs2491397
rs2491397 		1.000 0.080 9 98442880 intron variant C/T snv 0.50
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs2779562
rs2779562 		1.000 0.080 9 98515399 intron variant T/C snv 0.48
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs2808530
rs2808530 		0.925 0.080 9 98576823 intron variant A/C snv 0.12
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2018 2018
dbSNP: rs2808530
rs2808530 		0.925 0.080 9 98576823 intron variant A/C snv 0.12
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2018 2018
dbSNP: rs3750344
rs3750344 		1.000 0.080 9 98578034 synonymous variant T/C snv 0.16 0.19
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs944688
rs944688 		1.000 0.040 9 98601678 intron variant C/T snv 0.35
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2008 2008