SNP Detail For rs629301
1.Mapping Information
Human SNP ID rs629301
Human chromosome chr1
Human SNP position 109275684
Pig chromosome chr4
Pig SNP position 121295362
2.Annotation Information
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitLDL cholesterol
Initial sample95,454 European ancestry individuals
Replication sampleNA
Region1p13.3
Chromosome idchr1
Chromosome position109275684
Reported geneCELSR2, PSRC1, SORT1
Mapped geneCELSR2
Upstream gene id
Downstream gene id
SNP gene ids1952
Upstream gene distance
Downstream gene distance
SNP risk allelers629301-G
SNPsrs629301
Merged0
SNP id current629301
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.22
P value1E-170
Pvalue mlog170
P value text
Or beta5.65
%95 Ci[5.24-6.06] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000759
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitCholesterol, total
Initial sample100,184 European ancestry individuals
Replication sampleNA
Region1p13.3
Chromosome idchr1
Chromosome position109275684
Reported geneCELSR2, PSRC1, SORT1
Mapped geneCELSR2
Upstream gene id
Downstream gene id
SNP gene ids1952
Upstream gene distance
Downstream gene distance
SNP risk allelers629301-G
SNPsrs629301
Merged0
SNP id current629301
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.22
P value6E-131
Pvalue mlog130.221848749616
P value text
Or beta5.41
%95 Ci[4.94-5.88] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST000760
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitLDL cholesterol
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region1p13.3
Chromosome idchr1
Chromosome position109275684
Reported geneSORT1
Mapped geneCELSR2
Upstream gene id
Downstream gene id
SNP gene ids1952
Upstream gene distance
Downstream gene distance
SNP risk allelers629301-G
SNPsrs629301
Merged0
SNP id current629301
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.24
P value5E-241
Pvalue mlog240.301029995663
P value text
Or beta0.167
%95 Ci[NR] unit decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST002222
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitCholesterol, total
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region1p13.3
Chromosome idchr1
Chromosome position109275684
Reported geneSORT1
Mapped geneCELSR2
Upstream gene id
Downstream gene id
SNP gene ids1952
Upstream gene distance
Downstream gene distance
SNP risk allelers629301-G
SNPsrs629301
Merged0
SNP id current629301
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.24
P value2E-170
Pvalue mlog169.698970004336
P value text
Or beta0.134
%95 Ci[NR] unit decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002221