rs11648508

Homo sapiens
G>T
MMP15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0387 (11589/29894,GnomAD)
G==0407 (11852/29118,TOPMED)
G==0390 (1955/5008,1000G)
G==0308 (1187/3854,ALSPAC)
G==0294 (1091/3708,TWINSUK)
chr16:58029609 (GRCh38.p7) (16q21)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.58029609G>T
GRCh37.p13 chr 16NC_000016.9:g.58063513G>T

Gene: MMP15, matrix metallopeptidase 15(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MMP15 transcriptNM_002428.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.551T=0.449
1000GenomesAmericanSub694G=0.500T=0.500
1000GenomesEast AsianSub1008G=0.413T=0.587
1000GenomesEuropeSub1006G=0.270T=0.730
1000GenomesGlobalStudy-wide5008G=0.390T=0.610
1000GenomesSouth AsianSub978G=0.200T=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.308T=0.692
The Genome Aggregation DatabaseAfricanSub8702G=0.538T=0.462
The Genome Aggregation DatabaseAmericanSub838G=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1614G=0.401T=0.599
The Genome Aggregation DatabaseEuropeSub18440G=0.314T=0.685
The Genome Aggregation DatabaseGlobalStudy-wide29894G=0.387T=0.612
The Genome Aggregation DatabaseOtherSub300G=0.210T=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.407T=0.593
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.294T=0.706
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
rs116485080.000903alcohol dependence20201924

eQTL of rs11648508 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 rs11648508 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 )
chr165803885458038947E067-24566
chr165803903458039091E067-24422
chr165803912358039182E067-24331
chr165805567658057880E067-5633
chr165808305258083502E06719539
chr165805567658057880E068-5633
chr165806606158067510E0682548
chr165808305258083502E06819539
chr165803885458038947E069-24566
chr165805567658057880E069-5633
chr165806606158067510E0692548
chr165808253658083009E06919023
chr165808305258083502E06919539
chr165809086758090934E06927354
chr165809109658091400E06927583
chr165809146658091539E06927953
chr165802918858029267E070-34246
chr165802928258029502E070-34011
chr165802959258029642E070-33871
chr165805413258054233E070-9280
chr165805423458054330E070-9183
chr165805445158055345E070-8168
chr165805541058055470E070-8043
chr165805562658055666E070-7847
chr165805567658057880E070-5633
chr165805793558058018E070-5495
chr165805817858058272E070-5241
chr165806237958063012E070-501
chr165806305858063111E070-402
chr165806504658065160E0701533
chr165806516858065251E0701655
chr165806526458065748E0701751
chr165806606158067510E0702548
chr165806896358069131E0705450
chr165806939858069753E0705885
chr165806979158069867E0706278
chr165807006458070114E0706551
chr165807012358070177E0706610
chr165802928258029502E071-34011
chr165802959258029642E071-33871
chr165802965158029730E071-33783
chr165803885458038947E071-24566
chr165805567658057880E071-5633
chr165805793558058018E071-5495
chr165805817858058272E071-5241
chr165806606158067510E0712548
chr165809050858090645E07126995
chr165809086758090934E07127354
chr165809109658091400E07127583
chr165809146658091539E07127953
chr165802866758028707E072-34806
chr165802875558029016E072-34497
chr165803885458038947E072-24566
chr165803903458039091E072-24422
chr165803912358039182E072-24331
chr165805567658057880E072-5633
chr165806606158067510E0722548
chr165808012958080209E07216616
chr165808021158080279E07216698
chr165803639258036619E073-26894
chr165805567658057880E073-5633
chr165806606158067510E0732548
chr165802866758028707E074-34806
chr165802875558029016E074-34497
chr165805567658057880E074-5633
chr165806606158067510E0742548
chr165809109658091400E07427583
chr165809146658091539E07427953
chr165802918858029267E081-34246
chr165802928258029502E081-34011
chr165802959258029642E081-33871
chr165802965158029730E081-33783
chr165802982158029903E081-33610
chr165803885458038947E081-24566
chr165803903458039091E081-24422
chr165803912358039182E081-24331
chr165805445158055345E081-8168
chr165805567658057880E081-5633
chr165805793558058018E081-5495
chr165805817858058272E081-5241
chr165802911958029159E082-34354
chr165802918858029267E082-34246
chr165802928258029502E082-34011
chr165802959258029642E082-33871
chr165802965158029730E082-33783
chr165803166758031883E082-31630
chr165803188958032030E082-31483
chr165803203658032155E082-31358
chr165803216558032311E082-31202
chr165805445158055345E082-8168
chr165805541058055470E082-8043
chr165805567658057880E082-5633
chr165805793558058018E082-5495
chr165805817858058272E082-5241
chr165806237958063012E082-501
chr165806402158064099E082508
chr165806412058064391E082607
chr165806446958064731E082956
chr165806479758064847E0821284
chr165806504658065160E0821533
chr165806516858065251E0821655
chr165806526458065748E0821751










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr165801819558020106E067-43407
chr165803242258036304E067-27209
chr165805829958062351E067-1162
chr165801819558020106E068-43407
chr165803242258036304E068-27209
chr165805829958062351E068-1162
chr165801819558020106E069-43407
chr165803242258036304E069-27209
chr165805829958062351E069-1162
chr165803242258036304E070-27209
chr165805829958062351E070-1162
chr165801819558020106E071-43407
chr165803242258036304E071-27209
chr165805829958062351E071-1162
chr165801819558020106E072-43407
chr165803242258036304E072-27209
chr165805829958062351E072-1162
chr165801819558020106E073-43407
chr165803242258036304E073-27209
chr165805829958062351E073-1162
chr165801819558020106E074-43407
chr165803242258036304E074-27209
chr165805829958062351E074-1162
chr165801819558020106E082-43407
chr165803242258036304E082-27209
chr165805829958062351E082-1162