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: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 1 2016 2016