rs6079482

Homo sapiens
T>C
MACROD2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0139 (4176/29946,GnomAD)
C=0109 (3183/29118,TOPMED)
C=0088 (439/5008,1000G)
C=0151 (583/3854,ALSPAC)
C=0144 (535/3708,TWINSUK)
chr20:14536574 (GRCh38.p7) (20p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.14536574T>C
GRCh37.p13 chr 20NC_000020.10:g.14517220T>C

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.927C=0.073
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.816C=0.184
1000GenomesGlobalStudy-wide5008T=0.912C=0.088
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.849C=0.151
The Genome Aggregation DatabaseAfricanSub8716T=0.934C=0.066
The Genome Aggregation DatabaseAmericanSub838T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1618T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18472T=0.814C=0.185
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.860C=0.139
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.890C=0.109
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.856C=0.144
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
rs60794820.0000419alcoholismpha002892
rs60794820.000042alcohol dependence(early age of onset)20201924
rs60794820.00057alcohol dependence20201924

eQTL of rs6079482 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 rs6079482 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 )
chr201448661214486679E070-30541
chr201448668714486869E070-30351
chr201447851114478561E071-38659
chr201447936614479430E071-37790
chr201447943214479790E071-37430
chr201448661214486679E081-30541
chr201448668714486869E081-30351
chr201449326214493404E081-23816
chr201449348114493958E081-23262
chr201456115014561435E08243930
chr201456145914561550E08244239
chr201456159414561634E08244374