rs7349274

Homo sapiens
G>A
FASTKD1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0113 (11174/98346,ExAC)
A=0053 (1565/29118,TOPMED)
G==0064 (836/13004,GO-ESP)
A=0118 (591/5008,1000G)
A=0088 (339/3854,ALSPAC)
A=0081 (301/3708,TWINSUK)
chr2:169529784 (GRCh38.p7) (2q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.169529784G>A
GRCh37.p13 chr 2NC_000002.11:g.170386294G>A

Gene: FASTKD1, FAST kinase domains 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FASTKD1 transcript variant 1NM_024622.5:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant 2NM_001281476.2:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant 4NM_001322046.1:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant 5NM_001322048.1:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant 6NM_001322049.1:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant 3NR_104020.2:n.284...NR_104020.2:n.2847C>TC>TNon Coding Transcript Variant
FASTKD1 transcript variant X1XM_006712750.3:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant X2XM_017004911.1:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant X3XM_006712751.3:c.N/A3 Prime UTR Variant
FASTKD1 transcript variant X4XM_017004912.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.988A=0.012
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.798A=0.202
1000GenomesEuropeSub1006G=0.932A=0.068
1000GenomesGlobalStudy-wide5008G=0.882A=0.118
1000GenomesSouth AsianSub978G=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.912A=0.088
The Exome Aggregation ConsortiumAmericanSub18346G=0.927A=0.073
The Exome Aggregation ConsortiumAsianSub19686G=0.782A=0.217
The Exome Aggregation ConsortiumEuropeSub59584G=0.908A=0.091
The Exome Aggregation ConsortiumGlobalStudy-wide98346G=0.886A=0.113
The Exome Aggregation ConsortiumOtherSub730G=0.900A=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.946A=0.053
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.919A=0.081
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs73492743.44E-05alcohol consumption23953852

eQTL of rs7349274 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:170386294FASTKD1ENSG00000138399.13G>A1.6067e-5-44091Cerebellum
Chr2:170386294FASTKD1ENSG00000138399.13G>A1.6638e-3-44091Hypothalamus
Chr2:170386294FASTKD1ENSG00000138399.13G>A1.4638e-3-44091Cortex
Chr2:170386294FASTKD1ENSG00000138399.13G>A5.4457e-5-44091Cerebellar_Hemisphere
Chr2:170386294FASTKD1ENSG00000138399.13G>A4.6284e-9-44091Caudate_basal_ganglia
Chr2:170386294FASTKD1ENSG00000138399.13G>A2.7873e-9-44091Putamen_basal_ganglia
Chr2:170386294FASTKD1ENSG00000138399.13G>A9.7027e-4-44091Anterior_cingulate_cortex
Chr2:170386294FASTKD1ENSG00000138399.13G>A3.6052e-6-44091Nucleus_accumbens_basal_ganglia
Chr2:170386294FASTKD1ENSG00000138399.13G>A1.0166e-3-44091Amygdala

meQTL of rs7349274 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2170429477170430785E06743183
chr2170429477170430785E06843183
chr2170429477170430785E06943183
chr2170429477170430785E07043183
chr2170429477170430785E07143183
chr2170429477170430785E07243183
chr2170429241170429293E07342947
chr2170429477170430785E07343183
chr2170429477170430785E07443183
chr2170429477170430785E08143183
chr2170429241170429293E08242947
chr2170429477170430785E08243183