Disease: JOUBERT SYNDROME 21 ×
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: rs587777141
rs587777141 		1.000 8 67190655 stop gained -/A delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs773954226
rs773954226 		1.000 8 67179927 splice donor variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015