S100B, S100 calcium binding protein B, 6285

N. diseases: 599; N. variants: 6
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: rs3788266
rs3788266 		0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1051169
rs1051169 		0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1051169
rs1051169 		0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs9722
rs9722 		0.776 0.200 21 46599326 3 prime UTR variant G/A snv 0.16; 2.4E-05 0.21
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9722
rs9722 		0.776 0.200 21 46599326 3 prime UTR variant G/A snv 0.16; 2.4E-05 0.21
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2300403
rs2300403 		1.000 0.080 21 46601141 intron variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1051169
rs1051169 		0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2020 2020