rs4821888

Homo sapiens
A>G / A>T
SYNGR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0373 (11144/29852,GnomAD)
A==0389 (11348/29114,TOPMED)
G=0395 (5132/12994,GO-ESP)
A==0254 (1272/5008,1000G)
chr22:39374592 (GRCh38.p7) (22q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.39374592A>G
GRCh38.p7 chr 22NC_000022.11:g.39374592A>T
GRCh37.p13 chr 22NC_000022.10:g.39770597A>G
GRCh37.p13 chr 22NC_000022.10:g.39770597A>T

Gene: SYNGR1, synaptogyrin 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYNGR1 transcript variant 1aNM_004711.4:c.N/AIntron Variant
SYNGR1 transcript variant 1bNM_145731.3:c.N/AIntron Variant
SYNGR1 transcript variant 1cNM_145738.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.461G=0.539
1000GenomesAmericanSub694A=0.250G=0.750
1000GenomesEast AsianSub1008A=0.001G=0.999
1000GenomesEuropeSub1006A=0.374G=0.626
1000GenomesGlobalStudy-wide5008A=0.254G=0.746
1000GenomesSouth AsianSub978A=0.120G=0.880
The Genome Aggregation DatabaseAfricanSub8696A=0.453G=0.547
The Genome Aggregation DatabaseAmericanSub838A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1622A=0.001G=0.999
The Genome Aggregation DatabaseEuropeSub18396A=0.376G=0.624
The Genome Aggregation DatabaseGlobalStudy-wide29852A=0.373G=0.626
The Genome Aggregation DatabaseOtherSub300A=0.330G=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29114A=0.389G=0.610
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
rs48218880.0000114alcoholismpha002891
rs48218880.0000114alcohol dependence20201924

eQTL of rs4821888 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr22:39770597SYNGR1ENSG00000100321.10A>G3.4749e-324667Cerebellum
Chr22:39770597TAB1ENSG00000100324.9A>G8.3425e-5-25149Cerebellum

meQTL of rs4821888 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.