rs10083941

Homo sapiens
C>T
DCC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0090 (2715/29958,GnomAD)
T=0095 (2765/29118,TOPMED)
T=0068 (341/5008,1000G)
T=0129 (496/3854,ALSPAC)
T=0135 (502/3708,TWINSUK)
chr18:52755752 (GRCh38.p7) (18q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.52755752C>T
GRCh37.p13 chr 18NC_000018.9:g.50282122C>T
DCC RefSeqGeneNG_013341.1:g.420581C>T

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
1000GenomesAfricanSub1322C=0.968T=0.032
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.871T=0.129
1000GenomesGlobalStudy-wide5008C=0.932T=0.068
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.871T=0.129
The Genome Aggregation DatabaseAfricanSub8728C=0.962T=0.038
The Genome Aggregation DatabaseAmericanSub838C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1614C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18476C=0.879T=0.120
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.909T=0.090
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.905T=0.095
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.865T=0.135
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
rs100839411.2E-05alcoholism (heaviness of drinking)21529783

eQTL of rs10083941 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 rs10083941 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 )
chr185023917150239281E070-42841
chr185023938450239527E070-42595
chr185023963650239720E070-42402
chr185023990350239953E070-42169
chr185023999450240034E070-42088
chr185024008050240145E070-41977
chr185024017050240244E070-41878
chr185025730550257412E070-24710
chr185025751450257890E070-24232
chr185025799250258042E070-24080
chr185025465250254702E071-27420
chr185025465250254702E074-27420