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: rs11166389
rs11166389 		1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389 		1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs141952252
rs141952252 		1.000 1 100017814 missense variant A/G snv 6.2E-05 5.6E-05
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 1.000 1 2013 2013
dbSNP: rs398122524
rs398122524 		1.000 1 100011413 stop gained C/T snv
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 0
dbSNP: rs866803539
rs866803539 		1.000 1 100015346 frameshift variant -/A delins 8.0E-06 4.2E-05
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 0