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: rs796051881
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2015 2015