rs1057518817, NPR2

N. diseases: 4
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.
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
Trident hand
CUI: C0426874
Disease: Trident hand
2 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0