SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
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: rs121918334
rs121918334 		1.000 0.040 11 792429 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.800 1.000 1 2005 2005
dbSNP: rs4963153
rs4963153 		11 791462 3 prime UTR variant G/A snv 0.38
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1195505218
rs1195505218 		0.925 0.040 11 792142 missense variant C/T snv 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1195505218
rs1195505218 		0.925 0.040 11 792142 missense variant C/T snv 4.1E-06
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1195505218
rs1195505218 		0.925 0.040 11 792142 missense variant C/T snv 4.1E-06
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1195505218
rs1195505218 		0.925 0.040 11 792142 missense variant C/T snv 4.1E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121918335
rs121918335 		1.000 0.040 11 792340 missense variant C/A snv
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1554965669
rs1554965669 		0.925 0.040 11 792888 stop gained G/A snv
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1554965669
rs1554965669 		0.925 0.040 11 792888 stop gained G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1565035177
rs1565035177 		0.925 0.040 11 792146 frameshift variant CA/- delins
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1565035177
rs1565035177 		0.925 0.040 11 792146 frameshift variant CA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1565035177
rs1565035177 		0.925 0.040 11 792146 frameshift variant CA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1565035177
rs1565035177 		0.925 0.040 11 792146 frameshift variant CA/- delins
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs587777243
rs587777243 		1.000 0.040 11 792954 missense variant C/G snv
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs796053242
rs796053242 		1.000 11 792310 frameshift variant AG/- del 8.0E-06
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs797045969
rs797045969 		1.000 0.040 11 792722 stop gained G/A snv
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs936639741
rs936639741 		1.000 0.040 11 793551 stop gained G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0