Disease: Moyamoya disease 1 ×
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: rs373182378
rs373182378 		0.925 0.080 4 155713269 stop gained C/T snv 1.6E-05 1.4E-05
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs751701114
rs751701114 		1.000 0.080 4 155713561 missense variant G/A snv 4.0E-06
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs781020381
rs781020381 		1.000 0.080 4 155708249 frameshift variant GA/- delins 6.8E-05 8.4E-05
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.700 0