TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1075901
rs1075901 		17 16040596 non coding transcript exon variant T/C snv 0.60
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs1187416161
rs1187416161 		1.000 17 16004235 missense variant T/A;C snv 4.0E-06
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0
dbSNP: rs1555530551
rs1555530551 		1.000 17 16025157 stop gained G/T snv
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0
dbSNP: rs387907094
rs387907094 		1.000 17 16003885 stop gained C/T snv
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0
dbSNP: rs747166010
rs747166010 		1.000 17 16006548 stop gained T/G snv 6.4E-05 3.5E-05
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0
dbSNP: rs794726691
rs794726691 		1.000 17 16006490 frameshift variant GGCT/- delins
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0
dbSNP: rs794726692
rs794726692 		1.000 17 16025169 stop gained C/T snv
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.700 0