PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 ×
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: rs786204834
rs786204834 		1.000 5 140114797 missense variant A/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs793888527
rs793888527 		1.000 5 140114744 missense variant T/C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs793888533
rs793888533 		1.000 5 140114482 inframe deletion CTCTCTCCA/- delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs886039899
rs886039899 		0.925 0.160 5 140114891 missense variant C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0