rs788160

Homo sapiens
T>A / T>G
METAP1D : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0177 (5313/29926,GnomAD)
T==0167 (4888/29118,TOPMED)
T==0145 (727/5008,1000G)
T==0180 (692/3854,ALSPAC)
T==0183 (678/3708,TWINSUK)
chr2:172081587 (GRCh38.p7) (2q31.1)
AD
GWASdb2
2   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.172081587T>A
GRCh38.p7 chr 2NC_000002.12:g.172081587T>G
GRCh37.p13 chr 2NC_000002.11:g.172946315T>A
GRCh37.p13 chr 2NC_000002.11:g.172946315T>G
DLX1 RefSeqGeneNG_009218.1:g.1108T>A
DLX1 RefSeqGeneNG_009218.1:g.1108T>G

Gene: METAP1D, methionyl aminopeptidase type 1D (mitochondrial)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
METAP1D transcript variant 2NM_001322278.1:c.N/A3 Prime UTR Variant
METAP1D transcript variant 1NM_199227.2:c.N/A3 Prime UTR Variant
METAP1D transcript variant 3NM_001322279.1:c.N/A3 Prime UTR Variant
METAP1D transcript variant 4NR_136273.1:n.219...NR_136273.1:n.2199T>AT>ANon Coding Transcript Variant
METAP1D transcript variant 4NR_136273.1:n.219...NR_136273.1:n.2199T>GT>GNon Coding Transcript Variant
METAP1D transcript variant 5NR_136276.1:n.211...NR_136276.1:n.2113T>AT>ANon Coding Transcript Variant
METAP1D transcript variant 5NR_136276.1:n.211...NR_136276.1:n.2113T>GT>GNon Coding Transcript Variant
METAP1D transcript variant X1XM_017003750.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.153G=0.847
1000GenomesAmericanSub694T=0.150G=0.850
1000GenomesEast AsianSub1008T=0.113G=0.887
1000GenomesEuropeSub1006T=0.174G=0.826
1000GenomesGlobalStudy-wide5008T=0.145G=0.855
1000GenomesSouth AsianSub978T=0.140G=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.180G=0.820
The Genome Aggregation DatabaseAfricanSub8712T=0.159G=0.841
The Genome Aggregation DatabaseAmericanSub834T=0.170G=0.83,
The Genome Aggregation DatabaseEast AsianSub1620T=0.098G=0.902
The Genome Aggregation DatabaseEuropeSub18458T=0.194G=0.805
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.177G=0.822
The Genome Aggregation DatabaseOtherSub302T=0.150G=0.85,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.167G=0.832
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.183G=0.817
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
21302352Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders.Chang SCAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs7881605.9E-05alcoholism (heaviness of drinking)21529783

eQTL of rs788160 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 rs788160 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 )
chr25015163650151875E06721299
chr25017602350176133E06745686
chr25009153650091699E068-38638
chr25008909850089339E069-40998
chr25015103950151089E06920702
chr25015121850151303E06920881
chr25015132850151542E06920991
chr25009153650091699E070-38638
chr25009153650091699E071-38638
chr25008909850089339E072-40998
chr25009153650091699E072-38638
chr25012851550129202E072-1135
chr25014152050141749E07211183
chr25017537950175429E07245042
chr25017780050178167E07247463
chr25014104750141468E07310710
chr25017780050178167E07447463
chr25012851550129202E081-1135