rs1922179

Homo sapiens
C>T
LOC105373592 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0092 (2757/29794,GnomAD)
T=0087 (2553/29116,TOPMED)
T=0057 (283/5008,1000G)
T=0115 (443/3854,ALSPAC)
T=0117 (435/3708,TWINSUK)
chr2:122089563 (GRCh38.p7) (2q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.122089563C>T
GRCh37.p13 chr 2NC_000002.11:g.122847139C>T

Gene: LOC105373592, uncharacterized LOC105373592(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373592 transcript variant X1XR_001739684.1:n.N/AIntron Variant
LOC105373592 transcript variant X2XR_001739685.1:n.N/AIntron Variant
LOC105373592 transcript variant X3XR_923280.2:n.N/AIntron Variant
LOC105373592 transcript variant X4XR_923281.2:n.N/AIntron Variant
LOC105373592 transcript variant X5XR_923282.2:n.N/AIntron Variant
LOC105373592 transcript variant X6XR_923283.2:n.N/AGenic Downstream Transcript Variant
LOC105373592 transcript variant X7XR_923284.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.991T=0.009
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.998T=0.002
1000GenomesEuropeSub1006C=0.860T=0.140
1000GenomesGlobalStudy-wide5008C=0.943T=0.057
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.885T=0.115
The Genome Aggregation DatabaseAfricanSub8700C=0.973T=0.027
The Genome Aggregation DatabaseAmericanSub836C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1616C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18340C=0.871T=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29794C=0.907T=0.092
The Genome Aggregation DatabaseOtherSub302C=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.912T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.883T=0.117
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
rs19221790.00032alcohol dependence20201924

eQTL of rs1922179 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 rs1922179 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 )
chr2122865583122866057E06718444
chr2122869957122870032E06822818
chr2122865583122866057E06918444
chr2122869957122870032E06922818
chr2122864995122865377E07117856
chr2122865583122866057E07118444
chr2122864827122864907E07417688
chr2122864995122865377E07417856
chr2122835615122835695E081-11444
chr2122836087122836284E081-10855
chr2122837400122837466E081-9673
chr2122837689122837798E081-9341
chr2122837867122838287E081-8852
chr2122838347122838435E081-8704
chr2122838563122838714E081-8425
chr2122839127122839187E081-7952
chr2122839302122839679E081-7460






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2122870249122870473E06723110
chr2122870249122870473E06823110
chr2122870249122870473E07123110
chr2122870249122870473E07223110
chr2122870249122870473E07423110