AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
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: rs137852217
rs137852217 		0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1980 2017