Source: ALL

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: rs781908532
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.800 1.000 2 2018 2019
dbSNP: rs368647424
rs368647424
SLC25A1
1.000 0.120 22 19177779 missense variant C/T snv 3.7E-05 1.4E-05
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.800 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.800 0
dbSNP: rs431905510
rs431905510
SLC25A1
1.000 0.120 22 19176221 missense variant C/G;T snv 8.0E-06
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.800 0
dbSNP: rs781925968
rs781925968
SLC25A1
1.000 0.120 22 19176899 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.700 1.000 7 2013 2018
dbSNP: rs782335811
rs782335811
SLC25A1
1.000 0.120 22 19176872 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.700 1.000 7 2013 2018
dbSNP: rs2800974
rs2800974
SLC25A1 ; CLTCL1
22 19180574 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs712958
rs712958
SLC25A1 ; CLTCL1
22 19179896 3 prime UTR variant T/C snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs738904
rs738904
SLC25A1 ; CLTCL1
22 19179872 3 prime UTR variant C/A snv 0.37
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs762528
rs762528
SLC25A1 ; CLTCL1
22 19179167 upstream gene variant A/G snv 0.75
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs807668
rs807668
SLC25A1
22 19175173 downstream gene variant A/G snv 0.75
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8141941
rs8141941
SLC25A1
22 19178750 upstream gene variant G/A snv 0.40
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1331417017
rs1331417017
SLC25A1
1.000 0.120 22 19176884 missense variant C/T snv
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs483352910
rs483352910
SLC25A1
1.000 0.120 22 19176421 missense variant G/A snv 7.0E-06
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.700 0
dbSNP: rs483352911
rs483352911
SLC25A1
1.000 0.120 22 19177120 frameshift variant TTGTTCCCGC/- delins 2.8E-05 2.8E-05
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.700 0
dbSNP: rs781908532
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.700 0
dbSNP: rs781908532
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.700 0
dbSNP: rs781908532
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0