rs2319974

Homo sapiens
A>G
MALT1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0139 (4184/29978,GnomAD)
G=0160 (4664/29118,TOPMED)
G=0127 (636/5008,1000G)
G=0050 (192/3854,ALSPAC)
G=0050 (184/3708,TWINSUK)
chr18:58749237 (GRCh38.p7) (18q21.32)
ND
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.58749237A>G
GRCh37.p13 chr 18NC_000018.9:g.56416469A>G
MALT1 RefSeqGeneNG_033893.1:g.82852A>G

Gene: MALT1, MALT1 paracaspase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MALT1 transcript variant 1NM_006785.3:c.N/A3 Prime UTR Variant
MALT1 transcript variant 2NM_173844.2:c.N/A3 Prime UTR Variant
MALT1 transcript variant X4XM_011525794.1:c.N/AGenic Downstream Transcript Variant
MALT1 transcript variant X1XR_001753134.1:n....XR_001753134.1:n.4279A>GA>GNon Coding Transcript Variant
MALT1 transcript variant X2XR_001753135.1:n....XR_001753135.1:n.4246A>GA>GNon Coding Transcript Variant
MALT1 transcript variant X3XR_001753136.1:n....XR_001753136.1:n.4193A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.675G=0.325
1000GenomesAmericanSub694A=0.910G=0.090
1000GenomesEast AsianSub1008A=0.931G=0.069
1000GenomesEuropeSub1006A=0.935G=0.065
1000GenomesGlobalStudy-wide5008A=0.873G=0.127
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.950G=0.050
The Genome Aggregation DatabaseAfricanSub8714A=0.702G=0.298
The Genome Aggregation DatabaseAmericanSub838A=0.910G=0.090
The Genome Aggregation DatabaseEast AsianSub1620A=0.948G=0.052
The Genome Aggregation DatabaseEuropeSub18504A=0.923G=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.860G=0.139
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.839G=0.160
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.950G=0.050
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs23199741.17E-06alcohol and nictotine co-dependence20158304

eQTL of rs2319974 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 rs2319974 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 )
chr185643659956437157E06720130
chr185645149256453392E06835023
chr185645580956457510E06839340
chr185645756856457697E06841099
chr185644850056449458E06932031
chr185645149256453392E06935023
chr185645580956457510E06939340
chr185645756856457697E06941099
chr185645770356457940E06941234
chr185643659956437157E07020130
chr185645149256453392E07035023
chr185645563456455763E07039165
chr185645580956457510E07039340
chr185645149256453392E07135023
chr185645580956457510E07139340
chr185645149256453392E07235023
chr185645580956457510E07239340
chr185645580956457510E07339340
chr185645756856457697E07341099
chr185643659956437157E07420130
chr185645149256453392E07435023
chr185645580956457510E07439340
chr185645756856457697E07441099
chr185643514756436386E08118678
chr185643659956437157E08120130
chr185645435056454400E08137881
chr185645563456455763E08139165
chr185645580956457510E08139340
chr185645756856457697E08141099
chr185646118856461701E08144719
chr185646210356462255E08145634
chr185646051956461094E08244050
chr185646118856461701E08244719