PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: Poor school performance ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554129040
rs1554129040 		5 140114334 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782996
rs587782996 		0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782998
rs587782998 		0.882 0.080 5 140114651 missense variant T/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782999
rs587782999 		0.882 0.080 5 140114446 missense variant G/A;C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587783001
rs587783001 		0.882 0.080 5 140114777 missense variant G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0