{{Rsnum
|rsid=6687605
|Gene=LDLRAP1
|Chromosome=1
|position=25563141
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.4587
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=LDLRAP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 28.3 | 44.2 | 27.4
| HCB | 23.5 | 48.5 | 27.9
| JPT | 27.4 | 54.0 | 18.6
| YRI | 11.6 | 45.6 | 42.9
| ASW | 12.3 | 47.4 | 40.4
| CHB | 23.5 | 48.5 | 27.9
| CHD | 19.3 | 56.9 | 23.9
| GIH | 31.7 | 51.5 | 16.8
| LWK | 10.2 | 47.2 | 42.6
| MEX | 29.3 | 53.4 | 17.2
| MKK | 18.1 | 49.0 | 32.9
| TSI | 34.3 | 50.0 | 15.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=6687605
|allele=C
|frequency=
|uid=1103675050736
|type=homozygous_SNP
|hugo=LDLRAP1
|ensembl gene=ENSG00000157978
|ensembl transcript=ENST00000288855
|sift=TOLERATED
|disease=Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) (MIM:603813). ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia (FH) (MIM:143890) homozygotes, including severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skin fibroblasts is normal, as the LDL binding ability.
}}

{{GET Evidence
|gene=LDLRAP1
|aa_change=Ser202Pro
|aa_change_short=S202P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6687605
|overall_frequency_n=5043
|overall_frequency_d=10756
|overall_frequency=0.468855
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.803
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=2
}}

{{PMID Auto
|PMID=24906453
|Title=The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}