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: 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: 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: rs4788101
rs4788101
0.925 0.120 16 28856483 intron variant C/T snv 0.34
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4788102
rs4788102
0.851 0.160 16 28862077 intron variant G/A snv 0.34
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs7201929
rs7201929
1.000 0.080 16 28860645 intron variant T/C snv 0.25
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011