rs1057516045, LBR

N. diseases: 8
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.
Hyposegmentation of neutrophil nuclei
CUI: C4023351
Disease: Hyposegmentation of neutrophil nuclei
1 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 1.000 1 2016 2016
Pelger-Huet Anomaly
CUI: C0030779
Disease: Pelger-Huet Anomaly
7 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 1.000 1 2016 2016
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
6 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
Rhizomelic arm shortening
CUI: C1969532
Disease: Rhizomelic arm shortening
1 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
Rhizomelic leg shortening
CUI: C4023039
Disease: Rhizomelic leg shortening
1 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0