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: rs1047420796
rs1047420796
TRIT1
1.000 1 39847258 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4693466
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 		0.800 1.000 1 2014 2014
dbSNP: rs184469579
rs184469579
TRIT1
1.000 1 39883470 stop gained G/A;C snv 1.7E-04; 4.1E-06
CUI: C4693466
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 		0.700 1.000 1 2017 2017
dbSNP: rs146838322
rs146838322
TRIT1
1 39854058 missense variant A/G snv 1.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs536000212
rs536000212
TRIT1
1.000 0.040 1 39854050 frameshift variant G/- delins 3.2E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0