GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 ×
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: rs63750548
rs63750548 		0.925 17 44351035 splice acceptor variant A/G snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 10 2006 2017
dbSNP: rs1555611412
rs1555611412 		0.925 17 44352339 splice acceptor variant A/G snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 5 2006 2012
dbSNP: rs63751296
rs63751296 		0.925 17 44351362 splice acceptor variant G/C snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 5 2006 2013
dbSNP: rs63750707
rs63750707 		0.925 17 44351461 splice donor variant G/A snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 1.000 3 2006 2012
dbSNP: rs1392550887
rs1392550887 		0.925 17 44349241 frameshift variant -/C delins
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0
dbSNP: rs1567887496
rs1567887496 		0.925 17 44351607 stop gained C/T snv
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0
dbSNP: rs63749877
rs63749877 		0.882 0.120 17 44351139 frameshift variant CACT/- delins
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0
dbSNP: rs770058074
rs770058074 		1.000 17 44352365 missense variant C/A;T snv 4.0E-06
CUI: C3539123
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		0.700 0