rs121912683, SLC25A4

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
4 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.800 1.000 4 2005 2016
Mitochondrial Myopathies
CUI: C0162670
Disease: Mitochondrial Myopathies
19 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.710 1.000 1 2008 2008
Abnormality of mitochondrial metabolism
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
3 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Mitochondrial respiratory chain defects
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
4 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008