rs1446890

Homo sapiens
G>A
EXOC6B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0142 (4272/29946,GnomAD)
G==0174 (5068/29116,TOPMED)
G==0118 (591/5008,1000G)
G==0114 (438/3854,ALSPAC)
G==0119 (443/3708,TWINSUK)
chr2:72568601 (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.72568601G>A
GRCh37.p13 chr 2NC_000002.11:g.72795730G>A

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
1000GenomesAfricanSub1322G=0.260A=0.740
1000GenomesAmericanSub694G=0.100A=0.900
1000GenomesEast AsianSub1008G=0.006A=0.994
1000GenomesEuropeSub1006G=0.100A=0.900
1000GenomesGlobalStudy-wide5008G=0.118A=0.882
1000GenomesSouth AsianSub978G=0.070A=0.930
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.114A=0.886
The Genome Aggregation DatabaseAfricanSub8720G=0.266A=0.734
The Genome Aggregation DatabaseAmericanSub838G=0.070A=0.930
The Genome Aggregation DatabaseEast AsianSub1616G=0.005A=0.995
The Genome Aggregation DatabaseEuropeSub18470G=0.100A=0.899
The Genome Aggregation DatabaseGlobalStudy-wide29946G=0.142A=0.857
The Genome Aggregation DatabaseOtherSub302G=0.110A=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.174A=0.825
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.119A=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
rs14468900.00088alcohol dependence20201924

eQTL of rs1446890 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 rs1446890 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 )
chr27275217772752550E067-43180
chr27276054172760608E067-35122
chr27276619372766762E067-28968
chr27278899672789369E067-6361
chr27278944672789512E067-6218
chr27278954472789687E067-6043
chr27278968872789932E067-5798
chr27284110172841741E06745371
chr27275130872751467E068-44263
chr27275147572751601E068-44129
chr27275217772752550E068-43180
chr27276569772766179E068-29551
chr27276619372766762E068-28968
chr27278899672789369E068-6361
chr27283062672830986E06834896
chr27276569772766179E069-29551
chr27276619372766762E069-28968
chr27278899672789369E069-6361
chr27278944672789512E069-6218
chr27278954472789687E069-6043
chr27278968872789932E069-5798
chr27280368772803811E0697957
chr27284110172841741E06945371
chr27275130872751467E071-44263
chr27275217772752550E071-43180
chr27276054172760608E071-35122
chr27276100772761141E071-34589
chr27276198972762161E071-33569
chr27276569772766179E071-29551
chr27276619372766762E071-28968
chr27278899672789369E071-6361
chr27278944672789512E071-6218
chr27278954472789687E071-6043
chr27278968872789932E071-5798
chr27280368772803811E0717957
chr27280386872804113E0718138
chr27284197472842054E07146244
chr27275130872751467E072-44263
chr27275147572751601E072-44129
chr27275217772752550E072-43180
chr27276054172760608E072-35122
chr27276100772761141E072-34589
chr27276569772766179E072-29551
chr27276619372766762E072-28968
chr27278899672789369E072-6361
chr27278944672789512E072-6218
chr27278954472789687E072-6043
chr27283062672830986E07234896
chr27284110172841741E07245371
chr27284197472842054E07246244
chr27276619372766762E073-28968
chr27278899672789369E073-6361
chr27278944672789512E073-6218
chr27284197472842054E07346244
chr27275130872751467E074-44263
chr27275147572751601E074-44129
chr27275217772752550E074-43180
chr27276569772766179E074-29551
chr27276619372766762E074-28968
chr27278899672789369E074-6361
chr27278944672789512E074-6218
chr27278954472789687E074-6043
chr27278968872789932E074-5798
chr27283062672830986E07434896
chr27284110172841741E07445371
chr27284197472842054E07446244
chr27277411672774213E081-21517
chr27283062672830986E08234896