LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499921
rs1060499921
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499923
rs1060499923
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
C 0.700 CausalMutation CLINVAR
dbSNP: rs11547917
rs11547917
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
G 0.700 CausalMutation CLINVAR
dbSNP: rs13306512
rs13306512
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs137929307
rs137929307
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs139043155
rs139043155
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555805127
rs1555805127
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
CTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCA 0.700 GeneticVariation CLINVAR
dbSNP: rs193922567
rs193922567
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs200727689
rs200727689
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs730882094
rs730882094
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
C 0.700 GeneticVariation CLINVAR
dbSNP: rs730882102
rs730882102
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs750518671
rs750518671
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752935814
rs752935814
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs769370816
rs769370816
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs875989891
rs875989891
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs879254538
rs879254538
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
C 0.700 CausalMutation CLINVAR
dbSNP: rs879254563
rs879254563
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs879254592
rs879254592
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs879254712
rs879254712
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
G 0.700 CausalMutation CLINVAR
dbSNP: rs879254719
rs879254719
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0155210
Disease:
Eyelid Xanthoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs879254838
rs879254838
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs879254889
rs879254889
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0155210
Disease:
Eyelid Xanthoma
G 0.700 GeneticVariation CLINVAR