Source: CURATED

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: rs779453109
rs779453109
HNRNPU
1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 1.000 1 2017 2017