rs449438

Homo sapiens
A>C / A>T
LOC105376609 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0206 (6185/29894,GnomAD)
A==0189 (5518/29118,TOPMED)
A==0212 (1064/5008,1000G)
A==0259 (997/3854,ALSPAC)
A==0265 (982/3708,TWINSUK)
chr11:30629472 (GRCh38.p7) (11p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.30629472A>C
GRCh38.p7 chr 11NC_000011.10:g.30629472A>T
GRCh37.p13 chr 11NC_000011.9:g.30651019A>C
GRCh37.p13 chr 11NC_000011.9:g.30651019A>T

Gene: LOC105376609, uncharacterized LOC105376609(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376609 transcript variant X1XR_931156.2:n.N/AIntron Variant
LOC105376609 transcript variant X2XR_001748163.1:n.N/AGenic Downstream Transcript Variant
LOC105376609 transcript variant X3XR_001748164.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.030C=0.970
1000GenomesAmericanSub694A=0.250C=0.750
1000GenomesEast AsianSub1008A=0.228C=0.772
1000GenomesEuropeSub1006A=0.267C=0.733
1000GenomesGlobalStudy-wide5008A=0.212C=0.788
1000GenomesSouth AsianSub978A=0.360C=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.259C=0.741
The Genome Aggregation DatabaseAfricanSub8702A=0.065C=0.934
The Genome Aggregation DatabaseAmericanSub834A=0.270C=0.73,
The Genome Aggregation DatabaseEast AsianSub1608A=0.216C=0.784
The Genome Aggregation DatabaseEuropeSub18450A=0.268C=0.731
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.206C=0.793
The Genome Aggregation DatabaseOtherSub300A=0.280C=0.72,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.189C=0.810
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.265C=0.735
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
rs4494380.000593alcohol dependence21314694

eQTL of rs449438 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 rs449438 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.