rs7558514

Homo sapiens
G>A
LRP1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0392 (11736/29892,GnomAD)
G==0399 (11626/29118,TOPMED)
G==0312 (1563/5008,1000G)
G==0498 (1919/3854,ALSPAC)
G==0483 (1792/3708,TWINSUK)
chr2:141219604 (GRCh38.p7) (2q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.141219604G>A
GRCh37.p13 chr 2NC_000002.11:g.141977173G>A

Gene: LRP1B, LDL receptor related protein 1B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LRP1B transcriptNM_018557.2:c.N/AIntron Variant
LRP1B transcript variant X1XM_017004341.1:c.N/AIntron Variant
LRP1B transcript variant X3XM_017004342.1:c.N/AGenic Upstream Transcript Variant
LRP1B transcript variant X2XR_001738778.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.258A=0.742
1000GenomesAmericanSub694G=0.390A=0.610
1000GenomesEast AsianSub1008G=0.077A=0.923
1000GenomesEuropeSub1006G=0.495A=0.505
1000GenomesGlobalStudy-wide5008G=0.312A=0.688
1000GenomesSouth AsianSub978G=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.498A=0.502
The Genome Aggregation DatabaseAfricanSub8692G=0.284A=0.716
The Genome Aggregation DatabaseAmericanSub838G=0.410A=0.590
The Genome Aggregation DatabaseEast AsianSub1610G=0.068A=0.932
The Genome Aggregation DatabaseEuropeSub18450G=0.471A=0.528
The Genome Aggregation DatabaseGlobalStudy-wide29892G=0.392A=0.607
The Genome Aggregation DatabaseOtherSub302G=0.420A=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.399A=0.600
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.483A=0.517
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs75585140.000112alcohol dependence21314694

eQTL of rs7558514 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7558514 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2141944231141945045E067-32128
chr2141999272141999454E07122099
chr2141944231141945045E074-32128
chr2142001924142001979E07424751
chr2141980683141980861E0813510