NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: Short extremities ×
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: rs1057518817
rs1057518817 		1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0
dbSNP: rs1057519335
rs1057519335 		0.925 0.040 9 35792968 missense variant T/A snv
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0
dbSNP: rs757744435
rs757744435 		1.000 0.080 9 35794009 missense variant A/G;T snv
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0