rs17128103

Homo sapiens
C>T
PDE4B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0014 (433/29962,GnomAD)
T=0021 (628/29118,TOPMED)
T=0017 (87/5008,1000G)
chr1:65903182 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.65903182C>T
GRCh37.p13 chr 1NC_000001.10:g.66368865C>T
PDE4B RefSeqGeneNG_029038.1:g.115673C>T

Gene: PDE4B, phosphodiesterase 4B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PDE4B transcript variant dNM_001037341.1:c.N/AIntron Variant
PDE4B transcript variant eNM_001297440.1:c.N/AIntron Variant
PDE4B transcript variant aNM_002600.3:c.N/AIntron Variant
PDE4B transcript variant bNM_001037339.2:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant cNM_001037340.2:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant fNM_001297441.1:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant gNM_001297442.1:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X3XM_005270924.3:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X4XM_005270925.2:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X2XM_006710680.3:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X3XM_011541566.1:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X1XM_017001445.1:c.N/AGenic Upstream Transcript Variant
PDE4B transcript variant X4XM_017001446.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.937T=0.063
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.983T=0.017
1000GenomesSouth AsianSub978C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8724C=0.951T=0.049
The Genome Aggregation DatabaseAmericanSub838C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1602C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.985T=0.014
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.978T=0.021
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs171281030.000434alcohol dependence21314694

eQTL of rs17128103 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 rs17128103 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 )
chr16634656766346641E067-22224
chr16637745666377644E0688591
chr16637745666377644E0698591
chr16641467066414856E06945805
chr16641502866415199E06946163
chr16637745666377644E0708591
chr16637825066378312E0709385
chr16637745666377644E0818591