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: 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