LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
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: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.080 0.750 8 2008 2017
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2011 2017
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3762274
rs3762274
0.925 0.080 1 65598430 intron variant T/C snv 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs756624810
rs756624810
0.925 0.080 1 65596528 missense variant T/A;C snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011