rs2573680

Homo sapiens
T>C
ADAMTS17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0228 (6847/29934,GnomAD)
T==0189 (5527/29118,TOPMED)
T==0271 (1358/5008,1000G)
T==0237 (915/3854,ALSPAC)
T==0253 (938/3708,TWINSUK)
chr15:100018820 (GRCh38.p7) (15q26.3)
ND
GWASdb2
1   publication(s)
See rs on genome
141 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.100018820T>C
GRCh37.p13 chr 15NC_000015.9:g.100559025T>C
ADAMTS17 RefSeqGeneNG_016287.1:g.328159A>G

Gene: ADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTS17 transcriptNM_139057.2:c.N/AIntron Variant
ADAMTS17 transcript variant X5XM_005254872.3:c.N/AIntron Variant
ADAMTS17 transcript variant X4XM_011521312.2:c.N/AIntron Variant
ADAMTS17 transcript variant X1XM_017021973.1:c.N/AIntron Variant
ADAMTS17 transcript variant X2XM_017021974.1:c.N/AIntron Variant
ADAMTS17 transcript variant X3XM_017021975.1:c.N/AIntron Variant
ADAMTS17 transcript variant X6XM_017021976.1:c.N/AIntron Variant
ADAMTS17 transcript variant X11XM_017021978.1:c.N/AIntron Variant
ADAMTS17 transcript variant X12XM_017021979.1:c.N/AIntron Variant
ADAMTS17 transcript variant X13XM_017021980.1:c.N/AIntron Variant
ADAMTS17 transcript variant X15XM_017021982.1:c.N/AIntron Variant
ADAMTS17 transcript variant X16XM_017021983.1:c.N/AIntron Variant
ADAMTS17 transcript variant X7XM_017021977.1:c.N/AGenic Downstream Transcript Variant
ADAMTS17 transcript variant X14XM_017021981.1:c.N/AGenic Downstream Transcript Variant
ADAMTS17 transcript variant X17XM_017021984.1:c.N/AGenic Downstream Transcript Variant
ADAMTS17 transcript variant X8XR_001751118.1:n.N/AGenic Downstream Transcript Variant
ADAMTS17 transcript variant X9XR_001751119.1:n.N/AGenic Downstream Transcript Variant
ADAMTS17 transcript variant X10XR_001751120.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.079C=0.921
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.513C=0.487
1000GenomesEuropeSub1006T=0.225C=0.775
1000GenomesGlobalStudy-wide5008T=0.271C=0.729
1000GenomesSouth AsianSub978T=0.250C=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.237C=0.763
The Genome Aggregation DatabaseAfricanSub8720T=0.106C=0.894
The Genome Aggregation DatabaseAmericanSub832T=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1606T=0.507C=0.493
The Genome Aggregation DatabaseEuropeSub18474T=0.255C=0.744
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.228C=0.771
The Genome Aggregation DatabaseOtherSub302T=0.240C=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.189C=0.810
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.253C=0.747
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs25736800.000854nicotine smoking19268276

eQTL of rs2573680 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:100559025SPATA41ENSG00000189419.5T>C5.3652e-5-331413Cerebellum

meQTL of rs2573680 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 )
chr15100526198100526276E067-32749
chr15100526292100526403E067-32622
chr15100526413100527033E067-31992
chr15100527111100527211E067-31814
chr15100527223100527348E067-31677
chr15100527406100527532E067-31493
chr15100527633100527709E067-31316
chr15100529030100529080E067-29945
chr15100529211100529265E067-29760
chr15100529453100529501E067-29524
chr15100529773100529861E067-29164
chr15100542401100542589E067-16436
chr15100600482100600541E06741457
chr15100600600100600747E06741575
chr15100600827100601033E06741802
chr15100525539100525583E068-33442
chr15100525620100525756E068-33269
chr15100525781100525886E068-33139
chr15100526198100526276E068-32749
chr15100526292100526403E068-32622
chr15100526413100527033E068-31992
chr15100527111100527211E068-31814
chr15100527633100527709E068-31316
chr15100542401100542589E068-16436
chr15100542647100542748E068-16277
chr15100582729100584318E06823704
chr15100600482100600541E06841457
chr15100600600100600747E06841575
chr15100600827100601033E06841802
chr15100601099100601183E06842074
chr15100601337100601429E06842312
chr15100526198100526276E069-32749
chr15100526292100526403E069-32622
chr15100526413100527033E069-31992
chr15100527111100527211E069-31814
chr15100527633100527709E069-31316
chr15100529211100529265E069-29760
chr15100529773100529861E069-29164
chr15100542401100542589E069-16436
chr15100542647100542748E069-16277
chr15100566431100566485E0697406
chr15100582729100584318E06923704
chr15100600600100600747E06941575
chr15100600827100601033E06941802
chr15100562417100562467E0703392
chr15100562544100563366E0703519
chr15100593098100593189E07034073
chr15100599009100599059E07039984
chr15100599160100599200E07040135
chr15100599236100599337E07040211
chr15100599433100599514E07040408
chr15100600159100600327E07041134
chr15100600482100600541E07041457
chr15100600600100600747E07041575
chr15100600827100601033E07041802
chr15100601099100601183E07042074
chr15100601337100601429E07042312
chr15100601659100601740E07042634
chr15100602618100602696E07043593
chr15100602913100602963E07043888
chr15100603206100603246E07044181
chr15100525781100525886E071-33139
chr15100526198100526276E071-32749
chr15100526292100526403E071-32622
chr15100526413100527033E071-31992
chr15100527111100527211E071-31814
chr15100527223100527348E071-31677
chr15100527406100527532E071-31493
chr15100527633100527709E071-31316
chr15100528847100528897E071-30128
chr15100528911100528990E071-30035
chr15100529030100529080E071-29945
chr15100529211100529265E071-29760
chr15100529453100529501E071-29524
chr15100529773100529861E071-29164
chr15100535008100535271E071-23754
chr15100535281100535520E071-23505
chr15100535527100535646E071-23379
chr15100535681100535825E071-23200
chr15100542287100542337E071-16688
chr15100542401100542589E071-16436
chr15100542647100542748E071-16277
chr15100566431100566485E0717406
chr15100582729100584318E07123704
chr15100599236100599337E07140211
chr15100599433100599514E07140408
chr15100600159100600327E07141134
chr15100525781100525886E072-33139
chr15100526198100526276E072-32749
chr15100526292100526403E072-32622
chr15100526413100527033E072-31992
chr15100527111100527211E072-31814
chr15100527223100527348E072-31677
chr15100527406100527532E072-31493
chr15100527633100527709E072-31316
chr15100542401100542589E072-16436
chr15100542647100542748E072-16277
chr15100600159100600327E07241134
chr15100600482100600541E07241457
chr15100600600100600747E07241575
chr15100600827100601033E07241802
chr15100601099100601183E07242074
chr15100601337100601429E07242312
chr15100511097100511259E073-47766
chr15100523265100524637E073-34388
chr15100525781100525886E073-33139
chr15100526198100526276E073-32749
chr15100526413100527033E073-31992
chr15100527111100527211E073-31814
chr15100527223100527348E073-31677
chr15100527406100527532E073-31493
chr15100527633100527709E073-31316
chr15100600482100600541E07341457
chr15100600600100600747E07341575
chr15100600827100601033E07341802
chr15100601099100601183E07342074
chr15100601337100601429E07342312
chr15100526198100526276E074-32749
chr15100526292100526403E074-32622
chr15100526413100527033E074-31992
chr15100527633100527709E074-31316
chr15100529453100529501E074-29524
chr15100529773100529861E074-29164
chr15100542401100542589E074-16436
chr15100542647100542748E074-16277
chr15100523039100523129E081-35896
chr15100523265100524637E081-34388
chr15100562417100562467E0813392
chr15100562544100563366E0813519
chr15100581227100582028E08122202
chr15100582116100582255E08123091
chr15100582328100582404E08123303
chr15100593098100593189E08134073
chr15100593384100593428E08134359
chr15100593574100593649E08134549
chr15100593742100594041E08134717
chr15100594077100594220E08135052
chr15100594408100594521E08135383
chr15100593742100594041E08234717
chr15100594077100594220E08235052
chr15100594408100594521E08235383