LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338747
rs80338747
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs111733491
rs111733491
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0854723
Disease:
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1358532875
rs1358532875
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs138269726
rs138269726
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1559043276
rs1559043276
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs202057289
rs202057289
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0033375
Disease:
Prolactinoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs202057289
rs202057289
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0271183
Disease:
Severe myopia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs587776717
rs587776717
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs746752313
rs746752313
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs759025536
rs759025536
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0854723
Disease:
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs786205122
rs786205122
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs80338743
rs80338743
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs80338744
rs80338744
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs80338745
rs80338745
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs80338748
rs80338748
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs80338749
rs80338749
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs80338750
rs80338750
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs80338751
rs80338751
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs80338752
rs80338752
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs80338753
rs80338753
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs80338754
rs80338754
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs80338754
rs80338754
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
TG 0.700 CausalMutation CLINVAR
dbSNP: rs760114690
rs760114690
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
C 0.700 GeneticVariation CLINVAR Donnai-Barrow syndrome: four additional patients. 12923867 2003
dbSNP: rs2075252
rs2075252
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1384666
Disease:
hearing impairment
0.010 GeneticVariation BEFREE On the assumption that the mechanisms of cisplatin-induced nephro- and ototoxicity involve megalin we analyzed the incidence of the non-synonymous single nucleotide polymorphisms (SNP) rs</span>2075252 and rs4668123 in 25 patients who developed a distinct hearing loss during cisplatin therapy and in 25 patients without hearing impairment after cisplatin therapy. 17457342 2008
dbSNP: rs4668123
rs4668123
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1384666
Disease:
hearing impairment
0.010 GeneticVariation BEFREE On the assumption that the mechanisms of cisplatin-induced nephro- and ototoxicity involve megalin we analyzed the incidence of the non-synonymous single nucleotide polymorphisms (SNP) rs2075252 and rs4668123 in 25 patients who developed a distinct hearing loss during cisplatin therapy and in 25 patients without hearing impairment after cisplatin therapy. 17457342 2008