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: rs62621197
rs62621197 		1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2017 2019
dbSNP: rs11670030
rs11670030 		19 8604982 non coding transcript exon variant T/G snv 7.0E-02 7.5E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs62621197
rs62621197 		1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs62621197
rs62621197 		1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs62621197
rs62621197 		1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.700 1.000 1 2019 2019
dbSNP: rs7249094
rs7249094 		19 8607115 intron variant G/A snv 0.45
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2008 2008
dbSNP: rs7249094
rs7249094 		19 8607115 intron variant G/A snv 0.45
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs121434357
rs121434357 		1.000 0.160 19 8601029 stop gained G/A snv 4.0E-06
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121434358
rs121434358 		0.882 0.240 19 8605638 missense variant C/T snv 3.2E-05 2.1E-04
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121434359
rs121434359 		1.000 0.160 19 8597075 stop gained G/A snv
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606636
rs267606636 		1.000 0.160 19 8592797 missense variant C/T snv
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606637
rs267606637 		1.000 0.160 19 8589302 missense variant C/A;T snv 2.4E-05
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906266
rs387906266 		1.000 0.160 19 8600927 splice donor variant C/T snv 4.0E-06 7.0E-06
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs431825170
rs431825170 		1.000 0.160 19 8596306 splice donor variant C/T snv
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121434358
rs121434358 		0.882 0.240 19 8605638 missense variant C/T snv 3.2E-05 2.1E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121434358
rs121434358 		0.882 0.240 19 8605638 missense variant C/T snv 3.2E-05 2.1E-04
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs781964214
rs781964214 		0.882 0.080 19 8596401 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs781964214
rs781964214 		0.882 0.080 19 8596401 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs781964214
rs781964214 		0.882 0.080 19 8596401 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0036363
Disease: Schizotypal Personality Disorder
Schizotypal Personality Disorder 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs782006965
rs782006965 		0.925 0.040 19 8589505 missense variant C/T snv 4.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs782006965
rs782006965 		0.925 0.040 19 8589505 missense variant C/T snv 4.0E-06
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2011 2011