rs2380220

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0142 (4270/29928,GnomAD)
T==0127 (3714/29118,TOPMED)
T==0134 (671/5008,1000G)
T==0155 (597/3854,ALSPAC)
T==0154 (572/3708,TWINSUK)
chr6:95519536 (GRCh38.p7) (6q16.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.95519536T>C
GRCh37.p13 chr 6NC_000006.11:g.95967412T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.061C=0.939
1000GenomesAmericanSub694T=0.320C=0.680
1000GenomesEast AsianSub1008T=0.046C=0.954
1000GenomesEuropeSub1006T=0.161C=0.839
1000GenomesGlobalStudy-wide5008T=0.134C=0.866
1000GenomesSouth AsianSub978T=0.160C=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.155C=0.845
The Genome Aggregation DatabaseAfricanSub8710T=0.071C=0.929
The Genome Aggregation DatabaseAmericanSub838T=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1622T=0.036C=0.964
The Genome Aggregation DatabaseEuropeSub18456T=0.178C=0.821
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.142C=0.857
The Genome Aggregation DatabaseOtherSub302T=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.127C=0.872
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.154C=0.846
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs23802204E-06alcohol dependence23942779

eQTL of rs2380220 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:95967412MANEA-AS1ENSG00000261366.1T>C3.7930e-7-57914Cerebellum

meQTL of rs2380220 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 )
chr69599173295992158E07424320
chr69599960695999666E07432194
chr69599970796000072E07432295
chr69599401495994290E08126602
chr69599401495994290E08226602