rs2814209

Homo sapiens
T>C
SCART1 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0156 (4693/29922,GnomAD)
C=0156 (4545/29118,TOPMED)
C=0165 (826/5008,1000G)
C=0129 (497/3854,ALSPAC)
C=0134 (497/3708,TWINSUK)
chr10:133468697 (GRCh38.p7) (10q26.3)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.133468697T>C
GRCh37.p13 chr 10NC_000010.10:g.135282201T>C

Gene: SCART1, scavenger receptor protein family member(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
SCART1 transcriptNR_002934.3:n.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.824C=0.176
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.746C=0.254
1000GenomesEuropeSub1006T=0.891C=0.109
1000GenomesGlobalStudy-wide5008T=0.835C=0.165
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.871C=0.129
The Genome Aggregation DatabaseAfricanSub8714T=0.836C=0.164
The Genome Aggregation DatabaseAmericanSub838T=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1612T=0.746C=0.254
The Genome Aggregation DatabaseEuropeSub18456T=0.854C=0.145
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.843C=0.156
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.843C=0.156
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.866C=0.134
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
rs28142090.000479alcohol dependence21314694

eQTL of rs2814209 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 rs2814209 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 )
chr10135236083135236164E070-46037
chr10135235809135236073E071-46128
chr10135236083135236164E071-46037
chr10135252678135252840E072-29361



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10135236782135237284E070-44917
chr10135237741135237841E070-44360
chr10135236782135237284E071-44917
chr10135236782135237284E073-44917
chr10135237741135237841E073-44360
chr10135236782135237284E082-44917
chr10135237741135237841E082-44360