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: rs375713569
rs375713569
SDS
0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.020 1.000 2 2007 2011
dbSNP: rs1020608187
rs1020608187
SDS
1.000 0.120 12 113398843 missense variant C/G snv 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs201078173
rs201078173
SDS
0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.010 1.000 1 2008 2008
dbSNP: rs201078173
rs201078173
SDS
0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs201078173
rs201078173
SDS
0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		0.010 1.000 1 2008 2008
dbSNP: rs201078173
rs201078173
SDS
0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.010 1.000 1 2008 2008
dbSNP: rs371872753
rs371872753
SDS
1.000 12 113397313 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		0.010 1.000 1 2011 2011
dbSNP: rs373115603
rs373115603
SDS
1.000 0.040 12 113398557 missense variant G/A snv 1.3E-05 2.1E-05
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2013 2013
dbSNP: rs375713569
rs375713569
SDS
0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2007 2007
dbSNP: rs755233297
rs755233297
SDS
0.925 0.080 12 113397367 missense variant C/G;T snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2006 2006
dbSNP: rs755233297
rs755233297
SDS
0.925 0.080 12 113397367 missense variant C/G;T snv 8.0E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 1.000 1 2006 2006
dbSNP: rs950561906
rs950561906
SDS
0.925 0.120 12 113398775 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C2675519
Disease: Hypoadiponectinemia
Hypoadiponectinemia 		0.010 1.000 1 2003 2003
dbSNP: rs950561906
rs950561906
SDS
0.925 0.120 12 113398775 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2003 2003
dbSNP: rs950561906
rs950561906
SDS
0.925 0.120 12 113398775 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2003 2003