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: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2016 2016