Source: CLINVAR

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: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 1.000 1 2015 2015