rs1057519335, NPR2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
17 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
6 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
Lumbar hyperlordosis
CUI: C1184923
Disease: Lumbar hyperlordosis
8 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
Short metacarpal
CUI: C1837084
Disease: Short metacarpal
7 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0