rs6110333

Homo sapiens
C>T
MACROD2 : Intron Variant
MACROD2-IT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0044 (1334/29944,GnomAD)
T=0046 (1365/29118,TOPMED)
T=0047 (233/5008,1000G)
T=0031 (121/3854,ALSPAC)
T=0028 (105/3708,TWINSUK)
chr20:14568030 (GRCh38.p7) (20p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.14568030C>T
GRCh37.p13 chr 20NC_000020.10:g.14548676C>T

Gene: MACROD2, MACRO domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MACROD2 transcript variant 1NM_080676.5:c.N/AIntron Variant
MACROD2 transcript variant 2NM_001033087.1:c.N/AGenic Upstream Transcript Variant
MACROD2 transcript variant X3XM_017027677.1:c.N/AIntron Variant
MACROD2 transcript variant X2XM_017027675.1:c.N/AGenic Upstream Transcript Variant
MACROD2 transcript variant X3XM_017027676.1:c.N/AGenic Upstream Transcript Variant

Gene: MACROD2-IT1, MACROD2 intronic transcript 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MACROD2-IT1 transcriptNR_104193.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.893T=0.107
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.966T=0.034
1000GenomesGlobalStudy-wide5008C=0.953T=0.047
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.969T=0.031
The Genome Aggregation DatabaseAfricanSub8730C=0.929T=0.071
The Genome Aggregation DatabaseAmericanSub838C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1596C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18478C=0.964T=0.035
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.955T=0.044
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.953T=0.046
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.972T=0.028
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs61103330.00034alcohol dependence20201924

eQTL of rs6110333 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 rs6110333 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 )
chr201457996414580064E08131288
chr201456115014561435E08212474
chr201456145914561550E08212783
chr201456159414561634E08212918