PRAF2, PRA1 domain family member 2, 11230

N. diseases: 15; N. variants: 19
Disease: Dysmorphic features ×
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: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017