Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878855331
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.700 0
dbSNP: rs878855331
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 0
dbSNP: rs878855331
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878855331
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs878855331
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		0.700 0