BSN, bassoon presynaptic cytomatrix protein, 8927

N. diseases: 20; N. variants: 23
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: rs9858542
rs9858542 		0.925 0.040 3 49664550 synonymous variant G/A snv 0.26 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 4 2007 2010
dbSNP: rs9858542
rs9858542 		0.925 0.040 3 49664550 synonymous variant G/A snv 0.26 0.27
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.810 1.000 2 2009 2010
dbSNP: rs56116382
rs56116382 		3 49568755 intron variant A/C snv 0.19
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 3 2018 2019
dbSNP: rs11130206
rs11130206 		3 49559160 intron variant C/G snv 0.40
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115548824
rs115548824 		3 49658718 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs116046827
rs116046827 		0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs116046827
rs116046827 		0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs116046827
rs116046827 		0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs116046827
rs116046827 		0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs116046827
rs116046827 		0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11718165
rs11718165 		1.000 0.040 3 49659364 intron variant A/G snv 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs11917431
rs11917431 		3 49606579 intron variant C/G;T snv 0.28
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs11921590
rs11921590 		3 49606760 intron variant T/C snv 0.29
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs13096480
rs13096480 		3 49620651 intron variant A/G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1826347
rs1826347 		3 49634221 intron variant A/C snv 0.49
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1873625
rs1873625 		1.000 0.040 3 49629531 intron variant C/A snv 0.28
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1873625
rs1873625 		1.000 0.040 3 49629531 intron variant C/A snv 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs2172252
rs2172252 		3 49640874 intron variant A/T snv 0.27
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2329021
rs2329021 		1.000 0.040 3 49641639 non coding transcript exon variant G/A;C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs34762726
rs34762726 		1.000 0.040 3 49651777 missense variant G/A snv 0.27 0.28
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs35999162
rs35999162 		3 49559797 intron variant C/G snv 0.29
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs369849874
rs369849874 		3 49605741 intron variant TATA/-;TA delins 0.26
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56116382
rs56116382 		3 49568755 intron variant A/C snv 0.19
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56176327
rs56176327 		3 49669303 3 prime UTR variant G/A;C snv 6.9E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6770670
rs6770670 		3 49649249 intron variant T/C snv 0.28
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018