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: 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: 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: 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: 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