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: rs7632342
rs7632342 		3 49593788 intron variant G/T snv 0.26
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9812791
rs9812791 		1.000 0.040 3 49644878 intron variant G/A snv 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs9827708
rs9827708 		1.000 0.040 3 49612556 intron variant C/G snv 0.29
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs9836291
rs9836291 		3 49660026 intron variant G/A snv 0.30
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9875617
rs9875617 		1.000 0.040 3 49597263 intron variant G/A;C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs9858542
rs9858542 		0.925 0.040 3 49664550 synonymous variant G/A snv 0.26 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2010 2010