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: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C1843807
Disease: Basal ganglia disease, biotin-responsive
Basal ganglia disease, biotin-responsive 		0.700 1.000 3 2014 2017
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016