rs2206579

Homo sapiens
A>G
CDKAL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0292 (8740/29878,GnomAD)
G=0303 (8850/29118,TOPMED)
G=0278 (1392/5008,1000G)
G=0336 (1296/3854,ALSPAC)
G=0326 (1207/3708,TWINSUK)
chr6:20625403 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.20625403A>G
GRCh37.p13 chr 6NC_000006.11:g.20625634A>G
CDKAL1 RefSeqGeneNG_021195.1:g.95947A>G

Gene: CDKAL1, CDK5 regulatory subunit associated protein 1 like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CDKAL1 transcriptNM_017774.3:c.N/AIntron Variant
CDKAL1 transcript variant X7XM_011514718.1:c.N/AIntron Variant
CDKAL1 transcript variant X8XM_011514719.2:c.N/AIntron Variant
CDKAL1 transcript variant X9XM_017010986.1:c.N/AIntron Variant
CDKAL1 transcript variant X12XM_017010987.1:c.N/AIntron Variant
CDKAL1 transcript variant X3XR_001743495.1:n.N/AIntron Variant
CDKAL1 transcript variant X4XR_001743496.1:n.N/AIntron Variant
CDKAL1 transcript variant X13XR_001743500.1:n.N/AIntron Variant
CDKAL1 transcript variant X14XR_001743501.1:n.N/AIntron Variant
CDKAL1 transcript variant X1XR_926265.1:n.N/AIntron Variant
CDKAL1 transcript variant X2XR_926266.1:n.N/AIntron Variant
CDKAL1 transcript variant X5XR_926267.1:n.N/AIntron Variant
CDKAL1 transcript variant X9XR_001743498.1:n.N/AGenic Upstream Transcript Variant
CDKAL1 transcript variant X10XR_001743499.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.700G=0.300
1000GenomesAmericanSub694A=0.740G=0.260
1000GenomesEast AsianSub1008A=0.756G=0.244
1000GenomesEuropeSub1006A=0.663G=0.337
1000GenomesGlobalStudy-wide5008A=0.722G=0.278
1000GenomesSouth AsianSub978A=0.770G=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.664G=0.336
The Genome Aggregation DatabaseAfricanSub8704A=0.710G=0.290
The Genome Aggregation DatabaseAmericanSub832A=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1606A=0.722G=0.278
The Genome Aggregation DatabaseEuropeSub18434A=0.703G=0.297
The Genome Aggregation DatabaseGlobalStudy-wide29878A=0.707G=0.292
The Genome Aggregation DatabaseOtherSub302A=0.640G=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.696G=0.303
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.674G=0.326
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
rs22065790.00099alcohol dependence20201924

eQTL of rs2206579 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 rs2206579 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 )
chr62066080020661246E06835166
chr62066155220661865E06835918
chr62066192320662361E06836289
chr62064014220641070E06914508
chr62066155220661865E06935918
chr62066192320662361E06936289
chr62058315820583455E070-42179
chr62058351820583622E070-42012
chr62058378420583906E070-41728
chr62058447920584591E070-41043
chr62058463520584899E070-40735
chr62058512720585197E070-40437
chr62066192320662361E07036289
chr62060593420606146E071-19488
chr62066155220661865E07135918
chr62066192320662361E07136289
chr62066080020661246E07235166
chr62066155220661865E07235918
chr62066192320662361E07236289
chr62066192320662361E07336289
chr62064014220641070E07414508
chr62065746720657847E07431833
chr62066155220661865E07435918
chr62066192320662361E07436289
chr62057645520576535E081-49099
chr62057677420576824E081-48810
chr62057699320577045E081-48589
chr62057760020578077E081-47557
chr62060860420608897E081-16737
chr62057645520576535E082-49099
chr62057677420576824E082-48810
chr62057699320577045E082-48589
chr62057760020578077E082-47557
chr62060452320604671E082-20963