SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
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: rs7359397
rs7359397 		1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2010 2013
dbSNP: rs7359397
rs7359397 		1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2010 2013
dbSNP: rs7359397
rs7359397 		1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs7359397
rs7359397 		1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7359397
rs7359397 		1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2010 2010
dbSNP: rs1057518743
rs1057518743 		1.000 0.080 16 28845997 frameshift variant G/- del
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs11864750
rs11864750 		16 28863883 5 prime UTR variant A/G;T snv 0.34
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7187776
rs7187776 		16 28846324 5 prime UTR variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7187776
rs7187776 		16 28846324 5 prime UTR variant A/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs28433345
rs28433345 		16 28872006 non coding transcript exon variant T/C snv 0.69 0.68
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.880 0.778 9 2011 2015
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 4 2009 2019
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2009 2009
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2014
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2009 2009
dbSNP: rs149091795
rs149091795 		1.000 0.080 16 28866363 missense variant C/A snv 3.3E-04 1.2E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.700 1.000 1 2015 2015
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.800 1.000 1 2009 2009
dbSNP: rs7498665
rs7498665 		0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs935907949
rs935907949 		16 28867355 missense variant C/T snv 7.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057518742
rs1057518742 		1.000 0.080 16 28845030 missense variant A/T snv
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs4788102
rs4788102 		0.851 0.160 16 28862077 intron variant G/A snv 0.34
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs12446589
rs12446589 		16 28859641 intron variant G/A snv 0.30
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs12446589
rs12446589 		16 28859641 intron variant G/A snv 0.30
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018