LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ×
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: 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: 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: 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: 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