rs606231193, PQBP1

N. diseases: 6
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 1.000 6 1962 2011
Renpenning syndrome 1
CUI: C0796135
Disease: Renpenning syndrome 1
5 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 1.000 4 1994 2007
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0