rs1221872

Homo sapiens
A>G
DCC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0182 (5462/29870,GnomAD)
A==0189 (5523/29118,TOPMED)
A==0312 (1560/5008,1000G)
A==0110 (423/3854,ALSPAC)
A==0112 (416/3708,TWINSUK)
chr18:52603967 (GRCh38.p7) (18q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.52603967A>G
GRCh37.p13 chr 18NC_000018.9:g.50130337A>G
DCC RefSeqGeneNG_013341.1:g.268796A>G

Gene: DCC, DCC netrin 1 receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DCC transcriptNM_005215.3:c.N/AIntron Variant
DCC transcript variant X2XM_011525843.1:c.N/AIntron Variant
DCC transcript variant X1XM_017025568.1:c.N/AIntron Variant
DCC transcript variant X3XM_017025569.1:c.N/AIntron Variant
DCC transcript variant X5XM_011525844.2:c.N/AGenic Upstream Transcript Variant
DCC transcript variant X4XM_017025570.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.280G=0.720
1000GenomesAmericanSub694A=0.290G=0.710
1000GenomesEast AsianSub1008A=0.525G=0.475
1000GenomesEuropeSub1006A=0.087G=0.913
1000GenomesGlobalStudy-wide5008A=0.312G=0.688
1000GenomesSouth AsianSub978A=0.380G=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.110G=0.890
The Genome Aggregation DatabaseAfricanSub8696A=0.252G=0.748
The Genome Aggregation DatabaseAmericanSub832A=0.310G=0.690
The Genome Aggregation DatabaseEast AsianSub1616A=0.491G=0.509
The Genome Aggregation DatabaseEuropeSub18424A=0.118G=0.881
The Genome Aggregation DatabaseGlobalStudy-wide29870A=0.182G=0.817
The Genome Aggregation DatabaseOtherSub302A=0.110G=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.189G=0.810
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.112G=0.888
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs12218725.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1221872 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 rs1221872 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 )
chr185012297450123056E070-7281
chr185012311450123894E070-6443
chr185014989950149992E07019562
chr185015003950150097E07019702
chr185016045150160682E07030114
chr185012297450123056E081-7281
chr185012311450123894E081-6443
chr185012297450123056E082-7281
chr185012311450123894E082-6443
chr185013680350137511E0826466