rs1446891

Homo sapiens
C>T
EXOC6B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0116 (3498/29956,GnomAD)
C==0135 (3946/29116,TOPMED)
C==0093 (465/5008,1000G)
C==0113 (437/3854,ALSPAC)
C==0119 (442/3708,TWINSUK)
chr2:72579122 (GRCh38.p7) (2p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.72579122C>T
GRCh37.p13 chr 2NC_000002.11:g.72806251C>T

Gene: EXOC6B, exocyst complex component 6B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EXOC6B transcript variant 1NM_001321729.1:c.N/AIntron Variant
EXOC6B transcript variant 3NM_001321730.1:c.N/AIntron Variant
EXOC6B transcript variant 4NM_001321731.1:c.N/AIntron Variant
EXOC6B transcript variant 5NM_001321733.1:c.N/AIntron Variant
EXOC6B transcript variant 6NM_001321734.1:c.N/AIntron Variant
EXOC6B transcript variant 2NM_015189.2:c.N/AIntron Variant
EXOC6B transcript variant 7NR_135773.1:n.N/AIntron Variant
EXOC6B transcript variant 8NR_135774.1:n.N/AIntron Variant
EXOC6B transcript variant X1XM_011532711.2:c.N/AIntron Variant
EXOC6B transcript variant X2XM_011532712.2:c.N/AIntron Variant
EXOC6B transcript variant X3XM_017003641.1:c.N/AIntron Variant
EXOC6B transcript variant X4XM_005264224.1:c.N/AGenic Upstream Transcript Variant
EXOC6B transcript variant X5XM_017003642.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.166T=0.834
1000GenomesAmericanSub694C=0.100T=0.900
1000GenomesEast AsianSub1008C=0.006T=0.994
1000GenomesEuropeSub1006C=0.100T=0.900
1000GenomesGlobalStudy-wide5008C=0.093T=0.907
1000GenomesSouth AsianSub978C=0.070T=0.930
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.113T=0.887
The Genome Aggregation DatabaseAfricanSub8724C=0.179T=0.821
The Genome Aggregation DatabaseAmericanSub832C=0.070T=0.930
The Genome Aggregation DatabaseEast AsianSub1622C=0.005T=0.995
The Genome Aggregation DatabaseEuropeSub18476C=0.099T=0.900
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.116T=0.883
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.135T=0.864
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.119T=0.881
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
rs14468910.00099alcohol dependence20201924

eQTL of rs1446891 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 rs1446891 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 )
chr27276054172760608E067-45643
chr27276619372766762E067-39489
chr27278899672789369E067-16882
chr27278944672789512E067-16739
chr27278954472789687E067-16564
chr27278968872789932E067-16319
chr27284110172841741E06734850
chr27285255772852848E06746306
chr27285292572853001E06746674
chr27276569772766179E068-40072
chr27276619372766762E068-39489
chr27278899672789369E068-16882
chr27283062672830986E06824375
chr27285606672856116E06849815
chr27285616172856213E06849910
chr27276569772766179E069-40072
chr27276619372766762E069-39489
chr27278899672789369E069-16882
chr27278944672789512E069-16739
chr27278954472789687E069-16564
chr27278968872789932E069-16319
chr27280368772803811E069-2440
chr27284110172841741E06934850
chr27285255772852848E06946306
chr27285292572853001E06946674
chr27285413672854325E06947885
chr27285436372854444E06948112
chr27276054172760608E071-45643
chr27276100772761141E071-45110
chr27276198972762161E071-44090
chr27276569772766179E071-40072
chr27276619372766762E071-39489
chr27278899672789369E071-16882
chr27278944672789512E071-16739
chr27278954472789687E071-16564
chr27278968872789932E071-16319
chr27280368772803811E071-2440
chr27280386872804113E071-2138
chr27284197472842054E07135723
chr27284598772846134E07139736
chr27284688172846994E07140630
chr27285413672854325E07147885
chr27285436372854444E07148112
chr27276054172760608E072-45643
chr27276100772761141E072-45110
chr27276569772766179E072-40072
chr27276619372766762E072-39489
chr27278899672789369E072-16882
chr27278944672789512E072-16739
chr27278954472789687E072-16564
chr27283062672830986E07224375
chr27284110172841741E07234850
chr27284197472842054E07235723
chr27285255772852848E07246306
chr27285292572853001E07246674
chr27285606672856116E07249815
chr27285616172856213E07249910
chr27276619372766762E073-39489
chr27278899672789369E073-16882
chr27278944672789512E073-16739
chr27284197472842054E07335723
chr27276569772766179E074-40072
chr27276619372766762E074-39489
chr27278899672789369E074-16882
chr27278944672789512E074-16739
chr27278954472789687E074-16564
chr27278968872789932E074-16319
chr27283062672830986E07424375
chr27284110172841741E07434850
chr27284197472842054E07435723
chr27284598772846134E07439736
chr27284688172846994E07440630
chr27284718972847249E07440938
chr27285616172856213E07449910
chr27277411672774213E081-32038
chr27283062672830986E08224375