NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX 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: rs28931581
rs28931581 		1.000 0.040 9 35792502 missense variant C/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.800 1.000 3 2004 2016
dbSNP: rs28931582
rs28931582 		1.000 0.040 9 35792751 missense variant T/G snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.800 1.000 3 2004 2016
dbSNP: rs28929479
rs28929479 		1.000 0.040 9 35792936 missense variant T/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.800 0
dbSNP: rs1303913631
rs1303913631 		1.000 0.040 9 35806187 missense variant C/T snv 8.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 1.000 3 2004 2016
dbSNP: rs1313765432
rs1313765432 		1.000 0.040 9 35799634 missense variant C/T snv 4.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 1.000 3 2004 2016
dbSNP: rs1554672893
rs1554672893 		0.925 0.040 9 35799732 splice donor variant G/C snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 1.000 2 2004 2013
dbSNP: rs1563993649
rs1563993649 		0.925 0.040 9 35808507 splice acceptor variant A/T snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1057519324
rs1057519324 		0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519333
rs1057519333 		1.000 0.040 9 35806163 missense variant T/C snv 4.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519334
rs1057519334 		0.925 0.040 9 35802550 frameshift variant C/- del
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519335
rs1057519335 		0.925 0.040 9 35792968 missense variant T/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519336
rs1057519336 		1.000 0.040 9 35808811 missense variant G/A snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs121912739
rs121912739 		1.000 0.040 9 35800427 stop gained C/T snv 1.2E-05
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1305337032
rs1305337032 		1.000 0.040 9 35805905 missense variant A/G snv 7.0E-06
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1314542724
rs1314542724 		0.925 0.120 9 35805595 missense variant C/T snv
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs370158184
rs370158184 		1.000 0.040 9 35808665 missense variant C/T snv 1.2E-05
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0
dbSNP: rs879255257
rs879255257 		0.925 0.040 9 35800125 frameshift variant T/- delins
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		Musculoskeletal Diseases 0.700 0