NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE ×
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: rs587777596
rs587777596 		1.000 9 35805586 missense variant C/T snv 4.0E-06
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 1.000 4 2012 2014
dbSNP: rs587777597
rs587777597 		1.000 9 35801668 missense variant G/A;C snv 4.0E-06
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 1.000 4 2012 2014
dbSNP: rs1554672893
rs1554672893 		0.925 0.040 9 35799732 splice donor variant G/C snv
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.700 1.000 2 2004 2013
dbSNP: rs1563993649
rs1563993649 		0.925 0.040 9 35808507 splice acceptor variant A/T snv
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.700 1.000 1 2004 2004
dbSNP: rs587777595
rs587777595 		0.925 0.080 9 35807333 missense variant G/A snv
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.700 0