LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Disease: LEPTIN RECEPTOR DEFICIENCY ×
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: rs1303050393
rs1303050393 		1.000 1 65618108 missense variant T/C snv 4.0E-06
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 1.000 2 1998 2015
dbSNP: rs1553174844
rs1553174844 		1.000 1 65636776 frameshift variant -/AG delins
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0
dbSNP: rs1557670950
rs1557670950 		1.000 1 65572419 missense variant A/C snv
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0