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: rs121912615
rs121912615
SI
1.000 0.080 3 165046998 missense variant A/C;G snv 1.6E-03
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 9 1996 2017
dbSNP: rs121912616
rs121912616
SI
1.000 0.080 3 165021265 missense variant C/T snv 1.2E-03 1.5E-03
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 9 1996 2018
dbSNP: rs79717168
rs79717168
SI
1.000 0.080 3 164983015 missense variant A/C snv 9.7E-04 1.1E-03
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 8 1996 2012
dbSNP: rs121912611
rs121912611
SI
1.000 0.080 3 165019732 missense variant T/G snv 1.6E-05 2.1E-05
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 5 1996 2006
dbSNP: rs121912612
rs121912612
SI
1.000 0.080 3 165069101 missense variant T/C snv
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 5 1996 2006
dbSNP: rs121912613
rs121912613
SI
1.000 0.080 3 165046869 missense variant A/G snv
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 5 1996 2006
dbSNP: rs121912614
rs121912614
SI
1.000 0.080 3 165017621 missense variant C/T snv 4.0E-06
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 5 1996 2006
dbSNP: rs267607049
rs267607049
SI
1.000 0.080 3 165060026 missense variant A/G snv
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 1.000 5 1996 2006
dbSNP: rs765433197
rs765433197
SI
1.000 0.080 3 165046948 missense variant A/G snv 4.4E-05 4.2E-05
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.700 1.000 5 1996 2006
dbSNP: rs143388292
rs143388292
SI
1.000 0.080 3 165009359 missense variant T/C snv 2.6E-04 3.4E-04
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.700 0
dbSNP: rs1553775177
rs1553775177
SI
1.000 0.080 3 165040938 splice donor variant A/C snv
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.700 0
dbSNP: rs1465957886
rs1465957886
SI
1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2014 2014
dbSNP: rs1465957886
rs1465957886
SI
1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 1.000 1 2014 2014
dbSNP: rs1472425299
rs1472425299
SI
1.000 0.080 3 165069176 missense variant C/A;G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs551975446
rs551975446
SI
0.925 0.120 3 165043125 missense variant G/C snv 4.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 1994 1994
dbSNP: rs551975446
rs551975446
SI
0.925 0.120 3 165043125 missense variant G/C snv 4.8E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1994 1994
dbSNP: rs779692980
rs779692980
SI
1.000 0.080 3 164996634 missense variant A/C;G snv 4.0E-06; 1.6E-05
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.010 1.000 1 2017 2017