rs2246564

Homo sapiens
A>T
MELK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0102 (3057/29942,GnomAD)
T=0091 (2650/29118,TOPMED)
T=0089 (448/5008,1000G)
T=0101 (391/3854,ALSPAC)
T=0098 (364/3708,TWINSUK)
chr9:36638248 (GRCh38.p7) (9p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.36638248A>T
GRCh37.p13 chr 9NC_000009.11:g.36638245A>T

Gene: MELK, maternal embryonic leucine zipper kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MELK transcript variant 2NM_001256685.1:c.N/AIntron Variant
MELK transcript variant 3NM_001256687.1:c.N/AIntron Variant
MELK transcript variant 4NM_001256688.1:c.N/AIntron Variant
MELK transcript variant 5NM_001256689.1:c.N/AIntron Variant
MELK transcript variant 6NM_001256690.1:c.N/AIntron Variant
MELK transcript variant 7NM_001256691.1:c.N/AIntron Variant
MELK transcript variant 8NM_001256692.1:c.N/AIntron Variant
MELK transcript variant 9NM_001256693.1:c.N/AIntron Variant
MELK transcript variant 1NM_014791.3:c.N/AIntron Variant
MELK transcript variant 10NR_046337.1:n.N/AIntron Variant
MELK transcript variant X1XM_011518076.2:c.N/AIntron Variant
MELK transcript variant X2XM_011518077.1:c.N/AIntron Variant
MELK transcript variant X3XM_011518078.2:c.N/AIntron Variant
MELK transcript variant X4XM_011518079.1:c.N/AIntron Variant
MELK transcript variant X5XM_011518080.1:c.N/AIntron Variant
MELK transcript variant X7XM_011518081.2:c.N/AIntron Variant
MELK transcript variant X6XM_011518082.2:c.N/AIntron Variant
MELK transcript variant X8XM_011518083.2:c.N/AIntron Variant
MELK transcript variant X9XM_011518084.2:c.N/AIntron Variant
MELK transcript variant X10XM_011518085.1:c.N/AIntron Variant
MELK transcript variant X11XM_011518086.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.902T=0.098
1000GenomesAmericanSub694A=0.930T=0.070
1000GenomesEast AsianSub1008A=0.916T=0.084
1000GenomesEuropeSub1006A=0.897T=0.103
1000GenomesGlobalStudy-wide5008A=0.911T=0.089
1000GenomesSouth AsianSub978A=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.899T=0.101
The Genome Aggregation DatabaseAfricanSub8708A=0.901T=0.099
The Genome Aggregation DatabaseAmericanSub836A=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1620A=0.931T=0.069
The Genome Aggregation DatabaseEuropeSub18476A=0.891T=0.109
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.897T=0.102
The Genome Aggregation DatabaseOtherSub302A=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.909T=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.902T=0.098
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
rs22465640.000822alcohol dependence21314694

eQTL of rs2246564 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 rs2246564 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 )
chr93662487036625666E071-12579
chr93662435736624766E073-13479
chr93662487036625666E073-12579