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: rs1047322213
rs1047322213
PQBP1
1.000 0.120 X 48902470 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2018 2018
dbSNP: rs121917899
rs121917899
PQBP1
1.000 0.080 X 48901944 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016