rs220821

Homo sapiens
A>C
PDE10A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0394 (11807/29918,GnomAD)
C=0417 (12151/29118,TOPMED)
C=0420 (2104/5008,1000G)
C=0344 (1324/3854,ALSPAC)
C=0325 (1205/3708,TWINSUK)
chr6:165435750 (GRCh38.p7) (6q27)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.165435750A>C
GRCh37.p13 chr 6NC_000006.11:g.165849238A>C
PDE10A RefSeqGeneNG_031878.2:g.231351T>G

Gene: PDE10A, phosphodiesterase 10A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDE10A transcript variant 1NM_001130690.2:c.N/AIntron Variant
PDE10A transcript variant 2NM_006661.3:c.N/AIntron Variant
PDE10A transcript variant X4XM_006715321.3:c.N/AIntron Variant
PDE10A transcript variant X1XM_011535387.2:c.N/AIntron Variant
PDE10A transcript variant X3XM_011535388.2:c.N/AIntron Variant
PDE10A transcript variant X8XM_011535393.2:c.N/AIntron Variant
PDE10A transcript variant X2XM_017010194.1:c.N/AIntron Variant
PDE10A transcript variant X5XM_017010195.1:c.N/AIntron Variant
PDE10A transcript variant X6XM_017010196.1:c.N/AIntron Variant
PDE10A transcript variant X7XM_017010197.1:c.N/AIntron Variant
PDE10A transcript variant X9XR_001743121.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.437C=0.563
1000GenomesAmericanSub694A=0.560C=0.440
1000GenomesEast AsianSub1008A=0.556C=0.444
1000GenomesEuropeSub1006A=0.681C=0.319
1000GenomesGlobalStudy-wide5008A=0.580C=0.420
1000GenomesSouth AsianSub978A=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.656C=0.344
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.582C=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.675C=0.325
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs2208210.000937alcohol dependence24277619

eQTL of rs220821 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 rs220821 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 )
chr6165895404165895969E06846166
chr6165896236165896286E06846998
chr6165896497165896553E06847259
chr6165873628165873870E06924390
chr6165873628165873870E07024390
chr6165898128165898319E07048890
chr6165898358165898414E07049120
chr6165853437165854009E0714199
chr6165817755165818107E081-31131
chr6165818170165818346E081-30892
chr6165873283165873377E08124045
chr6165873628165873870E08124390
chr6165818170165818346E082-30892