rs11643269

Homo sapiens
G>A
ADAMTS18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0407 (12172/29872,GnomAD)
A=0404 (11781/29118,TOPMED)
A=0477 (2388/5008,1000G)
A=0338 (1303/3854,ALSPAC)
A=0322 (1194/3708,TWINSUK)
chr16:77343670 (GRCh38.p7) (16q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
73 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.77343670G>A
GRCh37.p13 chr 16NC_000016.9:g.77377567G>A
ADAMTS18 RefSeqGeneNG_031879.1:g.96445C>T

Gene: ADAMTS18, ADAM metallopeptidase with thrombospondin type 1 motif 18(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTS18 transcriptNM_199355.2:c.N/AIntron Variant
ADAMTS18 transcript variant X1XM_011522923.1:c.N/AIntron Variant
ADAMTS18 transcript variant X2XM_011522924.1:c.N/AIntron Variant
ADAMTS18 transcript variant X3XM_017022988.1:c.N/AIntron Variant
ADAMTS18 transcript variant X4XM_017022989.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.529A=0.471
1000GenomesAmericanSub694G=0.420A=0.580
1000GenomesEast AsianSub1008G=0.384A=0.616
1000GenomesEuropeSub1006G=0.681A=0.319
1000GenomesGlobalStudy-wide5008G=0.523A=0.477
1000GenomesSouth AsianSub978G=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.662A=0.338
The Genome Aggregation DatabaseAfricanSub8692G=0.552A=0.448
The Genome Aggregation DatabaseAmericanSub836G=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1614G=0.406A=0.594
The Genome Aggregation DatabaseEuropeSub18428G=0.632A=0.367
The Genome Aggregation DatabaseGlobalStudy-wide29872G=0.592A=0.407
The Genome Aggregation DatabaseOtherSub302G=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.595A=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.678A=0.322
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
rs116432690.00041alcohol dependence20201924

eQTL of rs11643269 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 rs11643269 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 )
chr167737049477370939E067-6628
chr167739286577393296E06715298
chr167739362377393663E06716056
chr167739382177393870E06716254
chr167742065477421292E06743087
chr167739286577393296E06815298
chr167739362377393663E06816056
chr167739382177393870E06816254
chr167733665477336893E069-40674
chr167733694577337088E069-40479
chr167736162577361679E069-15888
chr167736430677364663E069-12904
chr167736497577365035E069-12532
chr167738394177383991E0696374
chr167739223877392305E06914671
chr167739362377393663E06916056
chr167739382177393870E06916254
chr167739425677394612E06916689
chr167741385177413913E06936284
chr167741921577419440E06941648
chr167742065477421292E06943087
chr167741774177417795E07040174
chr167741921577419440E07041648
chr167741944877419551E07041881
chr167741955977419662E07041992
chr167741966577420125E07042098
chr167737100577371107E071-6460
chr167739223877392305E07114671
chr167739286577393296E07115298
chr167739362377393663E07116056
chr167739382177393870E07116254
chr167734421077344260E072-33307
chr167736162577361679E072-15888
chr167736430677364663E072-12904
chr167736497577365035E072-12532
chr167736960877370214E072-7353
chr167737029577370376E072-7191
chr167737049477370939E072-6628
chr167737100577371107E072-6460
chr167737119777371247E072-6320
chr167737132177371498E072-6069
chr167737943777379481E0721870
chr167738246277382502E0724895
chr167738256577382627E0724998
chr167738268177382802E0725114
chr167738394177383991E0726374
chr167739362377393663E07216056
chr167739382177393870E07216254
chr167741790477417997E07240337
chr167733665477336893E074-40674
chr167733694577337088E074-40479
chr167733722577337275E074-40292
chr167737049477370939E074-6628
chr167738394177383991E0746374
chr167739223877392305E07414671
chr167739286577393296E07415298
chr167739362377393663E07416056
chr167739382177393870E07416254
chr167739425677394612E07416689
chr167741921577419440E07441648
chr167741944877419551E07441881
chr167741955977419662E07441992
chr167741966577420125E07442098
chr167742046977420519E07442902
chr167742065477421292E07443087
chr167742130877421769E07443741
chr167742178077422004E07444213
chr167733957477339716E081-37851
chr167734917877349956E081-27611
chr167735000677350083E081-27484
chr167735028477350334E081-27233
chr167733982877340301E082-37266
chr167742046977420519E08242902