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: rs1553794464
rs1553794464 		1.000 3 114350821 frameshift variant -/C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2009 2017
dbSNP: rs1553794464
rs1553794464 		1.000 3 114350821 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2017
dbSNP: rs10804515
rs10804515 		3 114983210 intron variant A/G snv 0.60
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2007 2007
dbSNP: rs150263896
rs150263896 		3 114339010 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1533269
rs1533269 		3 114495764 intron variant C/A snv 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17619973
rs17619973 		3 114698828 intron variant A/G snv 5.1E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs17681451
rs17681451 		3 114680449 intron variant G/A snv 5.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1882289
rs1882289 		3 114742361 intron variant G/A snv 0.81
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2055981
rs2055981 		3 114485122 intron variant T/C snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2399510
rs2399510 		3 114834387 intron variant C/A snv 0.82
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6438208
rs6438208 		3 114451425 intron variant G/A snv 0.37
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs7643617
rs7643617 		3 115034231 intron variant A/C;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs7647708
rs7647708 		3 114463586 intron variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs879255635
rs879255635 		3 114339384 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs149509568
rs149509568 		1.000 0.040 3 114316541 mature miRNA variant A/G snv 4.0E-06 4.9E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018