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rs6687605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs6687605(C;C)
Make rs6687605(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25563141
GeneLDLRAP1
is asnp
is mentioned by
dbSNPrs6687605
ebirs6687605
HLIrs6687605
Exacrs6687605
Varsomers6687605
Maprs6687605
PheGenIrs6687605
hapmaprs6687605
1000 genomesrs6687605
hgdprs6687605
ensemblrs6687605
gopubmedrs6687605
geneviewrs6687605
scholarrs6687605
googlers6687605
pharmgkbrs6687605
gwascentralrs6687605
openSNPrs6687605
23andMers6687605
23andMe allrs6687605
SNP Nexus

SNPshotrs6687605
SNPdbers6687605
MSV3drs6687605
GWAS Ctlgrs6687605
GMAF0.4587
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene LDLRAP1
allele C
frequency
sift TOLERATED
HuRef 1103675050736
Disease Association 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
LDLRAP1-S202P
aa_change Ser202Pro
aa_change_short S202P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.468855
summary



[PMID 24906453OA-icon.png] The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction