rs1568523935, SLC25A42

N. diseases: 20
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.
Abnormality of the vasculature
CUI: C0241657
Disease: Abnormality of the vasculature
2 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
5 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Exercise-induced myalgia
CUI: C1850830
Disease: Exercise-induced myalgia
4 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Functional motor deficit
CUI: C4025360
Disease: Functional motor deficit
1 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Hyperhomocystinemia
CUI: C3806347
Disease: Hyperhomocystinemia
1 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Hypocupremia
CUI: C0268070
Disease: Hypocupremia
2 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Increased serum alanine
CUI: C1849489
Disease: Increased serum alanine
3 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Intermittent lactic acidemia
CUI: C1844917
Disease: Intermittent lactic acidemia
3 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Migraine with Aura
CUI: C0154723
Disease: Migraine with Aura
56 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Motheaten muscle fibers
CUI: C4022160
Disease: Motheaten muscle fibers
1 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Nausea and vomiting
CUI: C0027498
Disease: Nausea and vomiting
11 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Neuromuscular dysphagia
CUI: C4025729
Disease: Neuromuscular dysphagia
2 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Panic Attacks
CUI: C0086769
Disease: Panic Attacks
3 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Reduced brain choline level by MRS
CUI: C4476567
Disease: Reduced brain choline level by MRS
3 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Reduced brain N-acetyl aspartate level by MRS
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
8 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Restrictive deficit on pulmonary function testing
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
6 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Trismus
CUI: C0041105
Disease: Trismus
2 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0