Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED ×
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: rs121434286
rs121434286 		0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		0.700 0
dbSNP: rs267606737
rs267606737 		0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		0.700 0
dbSNP: rs386833738
rs386833738 		0.925 0.120 16 28484003 splice region variant T/G snv 1.8E-04 2.1E-05
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		0.700 0
dbSNP: rs786201028
rs786201028 		1.000 16 28486617 missense variant C/T snv
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		0.700 0