EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Flexion contracture - elbow ×
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: rs1557182214
rs1557182214 		0.925 0.120 X 154379567 splice donor variant G/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1995 1995
dbSNP: rs1557182692
rs1557182692 		0.925 0.120 X 154381106 frameshift variant TCTGG/- del
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1999 1999