LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Disease: SCLEROSTEOSIS 2 ×
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: rs387906883
rs387906883 		1.000 11 46875946 stop gained C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-06
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.800 1.000 2 2011 2014
dbSNP: rs387906884
rs387906884 		0.925 0.080 11 46876494 missense variant G/A snv 8.0E-06
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.800 1.000 2 2011 2014
dbSNP: rs1565785959
rs1565785959 		0.882 0.080 11 46879264 stop gained C/A snv
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.700 0