rs17168826

Homo sapiens
C>T
CHRM2 : Intron Variant
LOC349160 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0011 (352/29976,GnomAD)
T=0017 (509/29118,TOPMED)
T=0011 (54/5008,1000G)
chr7:136951740 (GRCh38.p7) (7q33)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.136951740C>T
GRCh37.p13 chr 7NC_000007.13:g.136636487C>T
CHRM2 RefSeqGene LRG_405

Gene: CHRM2, cholinergic receptor muscarinic 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHRM2 transcript variant 4NM_000739.2:c.N/AIntron Variant
CHRM2 transcript variant 3NM_001006626.1:c.N/AIntron Variant
CHRM2 transcript variant 2NM_001006627.1:c.N/AIntron Variant
CHRM2 transcript variant 6NM_001006628.1:c.N/AIntron Variant
CHRM2 transcript variant 8NM_001006629.1:c.N/AIntron Variant
CHRM2 transcript variant 1NM_001006630.1:c.N/AIntron Variant
CHRM2 transcript variant 5NM_001006631.1:c.N/AIntron Variant
CHRM2 transcript variant 7NM_001006632.1:c.N/AIntron Variant
CHRM2 transcript variant X1XM_011515769.2:c.N/AGenic Upstream Transcript Variant

Gene: LOC349160, uncharacterized LOC349160(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC349160 transcriptNR_046103.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.961T=0.039
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.989T=0.011
1000GenomesSouth AsianSub978C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8726C=0.960T=0.040
The Genome Aggregation DatabaseAmericanSub836C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1610C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18502C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.988T=0.011
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.982T=0.017
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
rs171688260.000958alcohol dependence20201924

eQTL of rs17168826 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 rs17168826 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 )
chr7136642161136642512E0715674
chr7136642606136643083E0716119