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: rs118203990
rs118203990 		1.000 22 46337925 missense variant T/C snv 4.0E-06
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.800 1.000 1 2009 2009
dbSNP: rs118203991
rs118203991 		1.000 22 46353809 missense variant G/A snv
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.800 1.000 1 2009 2009
dbSNP: rs387907022
rs387907022 		0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2009 2015
dbSNP: rs387907022
rs387907022 		0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2015
dbSNP: rs926748713
rs926748713 		1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2015
dbSNP: rs926748713
rs926748713 		1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2009 2015
dbSNP: rs387907022
rs387907022 		0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.700 1.000 4 2009 2015
dbSNP: rs118203992
rs118203992 		1.000 22 46335766 start lost T/A;C;G snv 6.9E-06
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.700 0
dbSNP: rs1490906786
rs1490906786 		1.000 22 46355445 frameshift variant C/-;CC delins
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.700 0
dbSNP: rs766314948
rs766314948 		1.000 22 46352316 missense variant T/C snv 4.0E-06
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.700 0
dbSNP: rs863224242
rs863224242 		1.000 22 46355521 frameshift variant -/C delins
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		0.700 0
dbSNP: rs772041297
rs772041297 		1.000 0.200 22 46350369 missense variant G/A snv 4.0E-06
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012