rs344797

Homo sapiens
T>G
MARK4 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0284 (8494/29898,GnomAD)
T==0264 (7700/29118,TOPMED)
T==0405 (2030/5008,1000G)
T==0291 (1120/3854,ALSPAC)
T==0283 (1051/3708,TWINSUK)
chr19:45304884 (GRCh38.p7) (19q13.32)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.45304884T>G
GRCh37.p13 chr 19NC_000019.9:g.45808142T>G

Gene: MARK4, microtubule affinity regulating kinase 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MARK4 transcript variant 1NM_001199867.1:c.N/A3 Prime UTR Variant
MARK4 transcript variant 2NM_031417.3:c.N/A3 Prime UTR Variant
MARK4 transcript variant X1XM_006723307.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.177G=0.823
1000GenomesAmericanSub694T=0.570G=0.430
1000GenomesEast AsianSub1008T=0.731G=0.269
1000GenomesEuropeSub1006T=0.308G=0.692
1000GenomesGlobalStudy-wide5008T=0.405G=0.595
1000GenomesSouth AsianSub978T=0.360G=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.291G=0.709
The Genome Aggregation DatabaseAfricanSub8712T=0.187G=0.813
The Genome Aggregation DatabaseAmericanSub836T=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1618T=0.779G=0.221
The Genome Aggregation DatabaseEuropeSub18430T=0.271G=0.728
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.284G=0.715
The Genome Aggregation DatabaseOtherSub302T=0.340G=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.264G=0.735
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.283G=0.717
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
rs3447970.000922alcohol dependence21314694

eQTL of rs344797 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 rs344797 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 )
chr194577614345776651E069-31491
chr194579752045797611E069-10531
chr194579762645797729E069-10413
chr194579777945797896E069-10246
chr194579793645798234E069-9908
chr194577866645779058E070-29084
chr194577929745779353E070-28789
chr194577950945779888E070-28254
chr194577614345776651E071-31491
chr194577614345776651E072-31491
chr194579762645797729E072-10413
chr194577614345776651E074-31491
chr194577866645779058E081-29084
chr194577929745779353E081-28789
chr194577950945779888E081-28254
chr194579752045797611E081-10531
chr194579762645797729E081-10413
chr194579777945797896E081-10246
chr194579793645798234E081-9908
chr194577866645779058E082-29084