rs1316638

Homo sapiens
T>C
DOCK2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0149 (4467/29928,GnomAD)
C=0125 (3643/29118,TOPMED)
C=0231 (1159/5008,1000G)
C=0127 (490/3854,ALSPAC)
C=0111 (411/3708,TWINSUK)
chr5:170050007 (GRCh38.p7) (5q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.170050007T>C
GRCh37.p13 chr 5NC_000005.9:g.169477011T>C

Gene: DOCK2, dedicator of cytokinesis 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOCK2 transcriptNM_004946.2:c.N/AIntron Variant
DOCK2 transcript variant X7XM_005265830.3:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X2XM_011534448.2:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X3XM_011534449.2:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X4XM_011534450.2:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X6XM_011534451.2:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X1XM_017009189.1:c.N/AGenic Downstream Transcript Variant
DOCK2 transcript variant X5XM_017009190.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.911C=0.089
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.512C=0.488
1000GenomesEuropeSub1006T=0.879C=0.121
1000GenomesGlobalStudy-wide5008T=0.769C=0.231
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.873C=0.127
The Genome Aggregation DatabaseAfricanSub8710T=0.901C=0.099
The Genome Aggregation DatabaseAmericanSub838T=0.580C=0.420
The Genome Aggregation DatabaseEast AsianSub1608T=0.516C=0.484
The Genome Aggregation DatabaseEuropeSub18470T=0.868C=0.131
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.850C=0.149
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.874C=0.125
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.889C=0.111
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs13166382.66E-05alcohol dependence21314694

eQTL of rs1316638 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 rs1316638 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 )
chr5169435491169435590E070-41421
chr5169435657169435707E070-41304
chr5169437256169437306E070-39705
chr5169437353169437652E070-39359
chr5169437694169437921E070-39090
chr5169444219169444370E070-32641
chr5169502866169502930E07025855
chr5169437353169437652E081-39359
chr5169437694169437921E081-39090
chr5169465219169465780E081-11231
chr5169465943169466140E081-10871
chr5169466196169466277E081-10734
chr5169473306169473575E081-3436
chr5169475555169475742E081-1269
chr5169473306169473575E082-3436