Source: CURATED

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: rs143378367
rs143378367
NDUFA13
19 19523443 intron variant T/-;TT;TTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7252888
rs7252888
NDUFA13 ; TSSK6
19 19517228 intron variant G/A snv 0.19
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
NDUFA13
0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs752513525
rs752513525
NDUFA13
0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2015 2015
dbSNP: rs137852869
rs137852869
NDUFA13 ; TSSK6
1.000 0.080 19 19516253 missense variant G/A;C snv
CUI: C0749424
Disease: Thyroid Hurthle Cell Carcinoma
Thyroid Hurthle Cell Carcinoma 		0.700 0
dbSNP: rs752513525
rs752513525
NDUFA13
0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05
CUI: C4748827
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 		0.700 0