LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
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: rs587777171
rs587777171 		1.000 0.080 1 225404452 missense variant T/C snv 4.0E-06
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 5 2003 2016
dbSNP: rs587777172
rs587777172 		1.000 0.080 1 225403403 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2003 2016
dbSNP: rs573510559
rs573510559 		1.000 1 225403394 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.800 1.000 2 2013 2015
dbSNP: rs200180113
rs200180113 		1.000 0.120 1 225411411 missense variant G/A snv 2.5E-04 2.1E-04
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs374343844
rs374343844 		1.000 1 225404451 missense variant T/A;C snv 4.0E-06; 3.2E-05
CUI: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 1.000 2 2013 2015
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: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		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: rs7406
rs7406 		1 225401771 3 prime UTR variant C/T snv 0.26
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		0.700 0
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		0.700 0
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C3494422
Disease: Retrognathia
Retrognathia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057516045
rs1057516045 		0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1236962991
rs1236962991 		1.000 0.120 1 225411351 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1558655670
rs1558655670 		1.000 1 225418168 frameshift variant ATG/TTTCTCATCA delins
CUI: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 0
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: rs387906416
rs387906416 		0.925 0.120 1 225404486 stop gained TAGAAGA/CTTCTAG mnv
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863223326
rs863223326 		0.925 0.120 1 225424041 frameshift variant ACCA/- del
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		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
dbSNP: rs886037655
rs886037655 		1.000 0.080 1 225406745 frameshift variant A/- delins
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0