Source: CLINVAR

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: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C1853241
Disease: Flat face
Flat face 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0