SBNO1, strawberry notch homolog 1, 55206

N. diseases: 39; N. variants: 9
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: rs4759375
rs4759375 		12 123311691 intron variant C/T snv 7.8E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2010 2019
dbSNP: rs4759375
rs4759375 		12 123311691 intron variant C/T snv 7.8E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs1060105
rs1060105 		0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs1060105
rs1060105 		0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1060105
rs1060105 		0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10773003
rs10773003 		12 123290580 3 prime UTR variant G/A snv 0.11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11057270
rs11057270 		12 123323526 intron variant T/C snv 0.28
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11830103
rs11830103 		12 123338999 intron variant A/G snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs11830103
rs11830103 		12 123338999 intron variant A/G snv 0.28
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs4759375
rs4759375 		12 123311691 intron variant C/T snv 7.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56116847
rs56116847 		1.000 0.040 12 123350686 intron variant G/A snv 0.29
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7298909
rs7298909 		12 123346392 intron variant C/T snv 0.89
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7298909
rs7298909 		12 123346392 intron variant C/T snv 0.89
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs77866843
rs77866843 		12 123352744 intron variant C/A snv 3.5E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7980687
rs7980687 		12 123338164 intron variant G/A snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs7980687
rs7980687 		12 123338164 intron variant G/A snv 0.22
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017