rs3122320

Homo sapiens
C>T
C1orf146 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0135 (4051/29974,GnomAD)
C==0116 (3379/29118,TOPMED)
C==0068 (341/5008,1000G)
C==0198 (762/3854,ALSPAC)
C==0192 (713/3708,TWINSUK)
chr1:92240081 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92240081C>T
GRCh37.p13 chr 1NC_000001.10:g.92705638C>T

Gene: C1orf146, chromosome 1 open reading frame 146(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C1orf146 transcriptNM_001012425.1:c.N/AIntron Variant
C1orf146 transcript variant X1XM_011541447.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.022T=0.978
1000GenomesAmericanSub694C=0.110T=0.890
1000GenomesEast AsianSub1008C=0.002T=0.998
1000GenomesEuropeSub1006C=0.194T=0.806
1000GenomesGlobalStudy-wide5008C=0.068T=0.932
1000GenomesSouth AsianSub978C=0.040T=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.198T=0.802
The Genome Aggregation DatabaseAfricanSub8730C=0.049T=0.951
The Genome Aggregation DatabaseAmericanSub838C=0.100T=0.900
The Genome Aggregation DatabaseEast AsianSub1622C=0.002T=0.998
The Genome Aggregation DatabaseEuropeSub18482C=0.190T=0.809
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.135T=0.864
The Genome Aggregation DatabaseOtherSub302C=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.116T=0.884
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.192T=0.808
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs31223204.76E-05alcohol consumption23953852

eQTL of rs3122320 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92705638RP4-621B10.8ENSG00000273487.1C>T2.7662e-450844Frontal_Cortex_BA9

meQTL of rs3122320 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 )
chr19270572292705867E07284