rs1057519334, NPR2

N. diseases: 7
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 35802550 frameshift variant C/- del 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
Limited elbow extension
CUI: C1867103
Disease: Limited elbow extension
2 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0