LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
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: rs753248521
rs753248521
0.882 0.120 19 11111523 missense variant A/G snv 4.0E-06
CUI: C0151826
Disease: Retrosternal pain
Retrosternal pain
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs879254642
rs879254642
0.882 0.120 19 11105589 missense variant A/C;G snv
CUI: C0151826
Disease: Retrosternal pain
Retrosternal pain
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs879254851
rs879254851
0.882 0.120 19 11113368 missense variant T/C snv
CUI: C0151826
Disease: Retrosternal pain
Retrosternal pain
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1998 1998