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: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		0.700 0