LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: Pelger-Huet Anomaly ×
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: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852605
rs137852605 		1.000 0.080 1 225422087 missense variant G/A snv 7.0E-06
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs137852606
rs137852606 		1.000 0.080 1 225403445 missense variant G/C snv
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs387906416
rs387906416 		0.925 0.120 1 225404486 stop gained TAGAAGA/CTTCTAG mnv
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs863223326
rs863223326 		0.925 0.120 1 225424041 frameshift variant ACCA/- del
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs886037616
rs886037616 		0.925 0.080 1 225404531 non coding transcript exon variant ATAAAA/- delins
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0