rs775835429, SLC19A3

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Basal ganglia disease, biotin-responsive
CUI: C1843807
Disease: Basal ganglia disease, biotin-responsive
19 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 3 2014 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016