EPHB1, EPH receptor B1, 2047

N. diseases: 169; N. variants: 17
Disease: MYOPATHY, MYOFIBRILLAR, 7 ×
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: rs377332009
rs377332009 		1.000 3 134625131 stop gained G/A;T snv 1.4E-05
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0
dbSNP: rs886037917
rs886037917 		1.000 3 134608668 frameshift variant C/- del
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0