rs386480

Homo sapiens
C>G
STK19 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0216 (24528/113464,ExAC)
C==0228 (6787/29730,GnomAD)
C==0168 (4915/29118,TOPMED)
G=0217 (1833/8436,GO-ESP)
C==0160 (803/5008,1000G)
C==0311 (1200/3854,ALSPAC)
C==0320 (1185/3708,TWINSUK)
chr6:31979060 (GRCh38.p7) (6p21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.31979060C>G
GRCh37.p13 chr 6NC_000006.11:g.31946837C>G
Rodgers blood group RefSeqGene LRG_137
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.3235031G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.3240627G>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.3226833G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.3232418G>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.3456487C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.3456593C>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.2:g.3280249G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.1:g.3279547G>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.3321097G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.3326682G>C

Gene: STK19, serine/threonine kinase 19(plus strand)

Molecule type Change Amino acid[Codon] SO Term
STK19 transcript variant 1NM_004197.1:c.N/AIntron Variant
STK19 transcript variant 2NM_032454.1:c.N/AIntron Variant
STK19 transcript variant 3NR_026717.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.046G=0.954
1000GenomesAmericanSub694C=0.140G=0.860
1000GenomesEast AsianSub1008C=0.310G=0.690
1000GenomesEuropeSub1006C=0.216G=0.784
1000GenomesGlobalStudy-wide5008C=0.160G=0.840
1000GenomesSouth AsianSub978C=0.120G=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.311G=0.689
The Exome Aggregation ConsortiumAmericanSub19996C=0.113G=0.886
The Exome Aggregation ConsortiumAsianSub24318C=0.167G=0.832
The Exome Aggregation ConsortiumEuropeSub68298C=0.263G=0.736
The Exome Aggregation ConsortiumGlobalStudy-wide113464C=0.216G=0.783
The Exome Aggregation ConsortiumOtherSub852C=0.190G=0.810
The Genome Aggregation DatabaseAfricanSub8668C=0.085G=0.915
The Genome Aggregation DatabaseAmericanSub834C=0.160G=0.840
The Genome Aggregation DatabaseEast AsianSub1598C=0.319G=0.681
The Genome Aggregation DatabaseEuropeSub18330C=0.292G=0.707
The Genome Aggregation DatabaseGlobalStudy-wide29730C=0.228G=0.771
The Genome Aggregation DatabaseOtherSub300C=0.130G=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.168G=0.831
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.320G=0.680
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
rs3864800.0001alcohol dependence(early age of onset)20201924
rs3864800.00032alcohol dependence20201924

eQTL of rs386480 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:31946837HLA-CENSG00000204525.10C>G8.5000e-26706955Cerebellum
Chr6:31946837XXbac-BPG248L24.12ENSG00000271581.1C>G1.7316e-22622413Cerebellum
Chr6:31946837SKIV2LENSG00000204351.7C>G9.5905e-2219949Cerebellum
Chr6:31946837CYP21A1PENSG00000204338.4C>G1.1355e-10-26629Cerebellum
Chr6:31946837CYP21A1PENSG00000204338.4C>G1.4139e-4-26629Frontal_Cortex_BA9
Chr6:31946837CYP21A1PENSG00000204338.4C>G2.0354e-4-26629Hypothalamus
Chr6:31946837CYP21A1PENSG00000204338.4C>G9.0047e-8-26629Cortex
Chr6:31946837HLA-DRB1ENSG00000196126.6C>G3.9457e-10-610788Cortex
Chr6:31946837HLA-CENSG00000204525.10C>G4.3410e-25706955Cerebellar_Hemisphere
Chr6:31946837WASF5PENSG00000231402.1C>G1.7109e-5690096Cerebellar_Hemisphere
Chr6:31946837CYP21A1PENSG00000204338.4C>G2.2428e-7-26629Cerebellar_Hemisphere
Chr6:31946837CYP21A1PENSG00000204338.4C>G3.5262e-8-26629Caudate_basal_ganglia
Chr6:31946837HLA-DRB5ENSG00000198502.5C>G2.1350e-25-551227Caudate_basal_ganglia
Chr6:31946837CYP21A1PENSG00000204338.4C>G3.6100e-4-26629Brain_Spinal_cord_cervical
Chr6:31946837CYP21A1PENSG00000204338.4C>G2.1327e-6-26629Anterior_cingulate_cortex
Chr6:31946837CYP21A1PENSG00000204338.4C>G1.8655e-7-26629Amygdala

meQTL of rs386480 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 )
chr63192570831925758E067-21079
chr63193784631938426E067-8411
chr63192570831925758E068-21079
chr63193784631938426E068-8411
chr63192570831925758E069-21079
chr63193784631938426E069-8411
chr63192570831925758E070-21079
chr63191287331912941E071-33896
chr63192570831925758E071-21079
chr63193784631938426E071-8411
chr63193752231937627E072-9210
chr63193766031937734E072-9103
chr63193784631938426E072-8411
chr63194166831941767E072-5070
chr63191287331912941E073-33896
chr63192457531924646E073-22191
chr63192570831925758E073-21079
chr63193723131937313E073-9524
chr63193752231937627E073-9210
chr63192570831925758E074-21079
chr63192570831925758E081-21079
chr63193784631938426E081-8411
chr63194166831941767E081-5070
chr63193723131937313E082-9524
chr63193752231937627E082-9210
chr63193766031937734E082-9103










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63192627931927462E067-19375
chr63193849231941215E067-5622
chr63192627931927462E068-19375
chr63193849231941215E068-5622
chr63192627931927462E069-19375
chr63193849231941215E069-5622
chr63192627931927462E070-19375
chr63193849231941215E070-5622
chr63192627931927462E071-19375
chr63193849231941215E071-5622
chr63192627931927462E072-19375
chr63193849231941215E072-5622
chr63192627931927462E073-19375
chr63193849231941215E073-5622
chr63192627931927462E074-19375
chr63193849231941215E074-5622
chr63192627931927462E081-19375
chr63193849231941215E081-5622
chr63192627931927462E082-19375
chr63193849231941215E082-5622