rs9295475

Homo sapiens
A>G
CDKAL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0245 (7334/29928,GnomAD)
G=0278 (8119/29118,TOPMED)
G=0303 (1519/5008,1000G)
G=0171 (658/3854,ALSPAC)
G=0173 (643/3708,TWINSUK)
chr6:20652534 (GRCh38.p7) (6p22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.20652534A>G
GRCh37.p13 chr 6NC_000006.11:g.20652765A>G
CDKAL1 RefSeqGeneNG_021195.1:g.123078A>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=0.579G=0.421
1000GenomesAmericanSub694A=0.780G=0.220
1000GenomesEast AsianSub1008A=0.605G=0.395
1000GenomesEuropeSub1006A=0.837G=0.163
1000GenomesGlobalStudy-wide5008A=0.697G=0.303
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.829G=0.171
The Genome Aggregation DatabaseAfricanSub8704A=0.615G=0.385
The Genome Aggregation DatabaseAmericanSub838A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1612A=0.628G=0.372
The Genome Aggregation DatabaseEuropeSub18472A=0.828G=0.171
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.754G=0.245
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.721G=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.827G=0.173
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs92954756.28E-05nicotine smoking19268276

eQTL of rs9295475 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 rs9295475 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 )
chr62068086020681578E06728095
chr62068162420681741E06728859
chr62068180020681865E06729035
chr62066080020661246E0688035
chr62066155220661865E0688787
chr62066192320662361E0689158
chr62068086020681578E06828095
chr62068162420681741E06828859
chr62068180020681865E06829035
chr62064014220641070E069-11695
chr62066155220661865E0698787
chr62066192320662361E0699158
chr62066192320662361E0709158
chr62060593420606146E071-46619
chr62066155220661865E0718787
chr62066192320662361E0719158
chr62066080020661246E0728035
chr62066155220661865E0728787
chr62066192320662361E0729158
chr62068086020681578E07228095
chr62068162420681741E07228859
chr62068180020681865E07229035
chr62066192320662361E0739158
chr62064014220641070E074-11695
chr62065746720657847E0744702
chr62066155220661865E0748787
chr62066192320662361E0749158
chr62068086020681578E07428095
chr62060860420608897E081-43868
chr62070068220700943E08147917
chr62070094920701024E08148184
chr62060452320604671E082-48094
chr62069533520695421E08242570
chr62070068220700943E08247917
chr62070094920701024E08248184