SH3PXD2A, SH3 and PX domains 2A, 9644

N. diseases: 32; N. variants: 12
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: rs35176054
rs35176054 		1.000 0.080 10 103720629 intron variant T/A snv 0.11
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 4 2017 2018
dbSNP: rs11191786
rs11191786 		10 103732791 intron variant A/G snv 0.27
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12248541
rs12248541 		1.000 0.080 10 103630585 intron variant A/G snv 4.2E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12257568
rs12257568 		10 103763117 intron variant C/T snv 0.38
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs2047036
rs2047036 		1.000 0.080 10 103717405 intron variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2295786
rs2295786 		1.000 0.080 10 103856724 upstream gene variant A/G;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2295786
rs2295786 		1.000 0.080 10 103856724 upstream gene variant A/G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3740471
rs3740471 		10 103603532 synonymous variant T/C snv 0.18 0.17
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs4918037
rs4918037 		1.000 0.120 10 103653282 intron variant A/G snv 0.88
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs75577686
rs75577686 		10 103619372 intron variant T/G snv 2.6E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7909791
rs7909791 		10 103853420 intron variant C/A snv 0.33
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7921536
rs7921536 		1.000 0.080 10 103597080 3 prime UTR variant A/G snv 3.5E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3740473
rs3740473 		1.000 0.080 10 103602422 synonymous variant G/A;T snv 9.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010