rs1491579

Homo sapiens
T>C
SH3GL3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0406 (12162/29902,GnomAD)
T==0326 (9496/29118,TOPMED)
T==0407 (2038/5008,1000G)
T==0437 (1686/3854,ALSPAC)
T==0444 (1646/3708,TWINSUK)
chr15:83509927 (GRCh38.p7) (15q25.2)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.83509927T>C
GRCh37.p13 chr 15NC_000015.9:g.84178679T>C

Gene: SH3GL3, SH3 domain containing GRB2 like 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SH3GL3 transcript variant EEN-B2-L2NM_001301108.1:c.N/AIntron Variant
SH3GL3 transcript variant EEN-B2-L3NM_001301109.1:c.N/AIntron Variant
SH3GL3 transcript variant 5NM_001324182.1:c.N/AIntron Variant
SH3GL3 transcript variant 6NM_001324183.1:c.N/AIntron Variant
SH3GL3 transcript variant 7NM_001324184.1:c.N/AIntron Variant
SH3GL3 transcript variant 9NM_001324185.1:c.N/AIntron Variant
SH3GL3 transcript variant 13NM_001324186.1:c.N/AIntron Variant
SH3GL3 transcript variant 14NM_001324187.1:c.N/AIntron Variant
SH3GL3 transcript variant EEN-B2-L1NM_003027.4:c.N/AIntron Variant
SH3GL3 transcript variant 4NR_125370.1:n.N/AIntron Variant
SH3GL3 transcript variant 8NR_136711.1:n.N/AIntron Variant
SH3GL3 transcript variant 10NR_136712.1:n.N/AIntron Variant
SH3GL3 transcript variant 11NR_136713.1:n.N/AIntron Variant
SH3GL3 transcript variant 12NR_136714.1:n.N/AIntron Variant
SH3GL3 transcript variant X1XM_011521889.1:c.N/AIntron Variant
SH3GL3 transcript variant X11XM_011521891.2:c.N/AIntron Variant
SH3GL3 transcript variant X13XM_011521892.2:c.N/AIntron Variant
SH3GL3 transcript variant X6XM_017022486.1:c.N/AGenic Upstream Transcript Variant
SH3GL3 transcript variant X5XR_001751372.1:n.N/AIntron Variant
SH3GL3 transcript variant X7XR_001751373.1:n.N/AIntron Variant
SH3GL3 transcript variant X14XR_001751375.1:n.N/AIntron Variant
SH3GL3 transcript variant X2XR_931878.2:n.N/AIntron Variant
SH3GL3 transcript variant X3XR_931879.2:n.N/AIntron Variant
SH3GL3 transcript variant X4XR_931880.1:n.N/AIntron Variant
SH3GL3 transcript variant X9XR_931882.2:n.N/AIntron Variant
SH3GL3 transcript variant X8XR_001751374.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.166C=0.834
1000GenomesAmericanSub694T=0.260C=0.740
1000GenomesEast AsianSub1008T=0.490C=0.510
1000GenomesEuropeSub1006T=0.453C=0.547
1000GenomesGlobalStudy-wide5008T=0.407C=0.593
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.437C=0.563
The Genome Aggregation DatabaseAfricanSub8714T=0.206C=0.794
The Genome Aggregation DatabaseAmericanSub836T=0.270C=0.730
The Genome Aggregation DatabaseEast AsianSub1608T=0.490C=0.510
The Genome Aggregation DatabaseEuropeSub18444T=0.501C=0.498
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.406C=0.593
The Genome Aggregation DatabaseOtherSub300T=0.340C=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.326C=0.673
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.444C=0.556
PMID Title Author Journal
20075193A genome-wide linkage scan identifies multiple quantitative trait loci for HDL-cholesterol levels in families with premature CAD and MI.Yang RJ Lipid Res
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs14915791.47E-05alcohol consumption23743675

eQTL of rs1491579 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 rs1491579 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 )
chr158414019584140252E067-38427
chr158414038784140446E067-38233
chr158414173384141783E067-36896
chr158414295384143003E067-35676
chr158414321284143262E067-35417
chr158414336184143754E067-34925
chr158414401484144086E067-34593
chr158414432284144563E067-34116
chr158414478884144840E067-33839
chr158414495084145285E067-33394
chr158414545084146705E067-31974
chr158414674384146947E067-31732
chr158414697784147027E067-31652
chr158414811784148177E067-30502
chr158414824284148380E067-30299
chr158415705884157152E067-21527
chr158415739584157445E067-21234
chr158415768884157779E067-20900
chr158415797684158069E067-20610
chr158415979584159861E067-18818
chr158416025384160539E067-18140
chr158416146584161515E067-17164
chr158417767684177726E067-953
chr158417795684178025E067-654
chr158418098484181041E0672305
chr158418119184181597E0672512
chr158418164184181685E0672962
chr158418177584181835E0673096
chr158418187184181952E0673192
chr158418229584182345E0673616
chr158418355184183667E0674872
chr158418369084183740E0675011
chr158418397584184314E0675296
chr158420194884202149E06723269
chr158420243484202751E06723755
chr158420284384203196E06724164
chr158421807684218360E06739397
chr158421837184218878E06739692
chr158422700984227181E06748330
chr158422780584227845E06749126
chr158422801484228636E06749335
chr158413090884131111E068-47568
chr158413116384131355E068-47324
chr158413138184131463E068-47216
chr158413173384132131E068-46548
chr158414336184143754E068-34925
chr158414545084146705E068-31974
chr158414674384146947E068-31732
chr158414697784147027E068-31652
chr158414710684147158E068-31521
chr158414719784147274E068-31405
chr158414742184147492E068-31187
chr158414811784148177E068-30502
chr158414824284148380E068-30299
chr158415003484150321E068-28358
chr158415033484150488E068-28191
chr158415052484150592E068-28087
chr158415637384156510E068-22169
chr158415705884157152E068-21527
chr158415739584157445E068-21234
chr158415768884157779E068-20900
chr158415797684158069E068-20610
chr158415979584159861E068-18818
chr158416025384160539E068-18140
chr158417514684175322E068-3357
chr158417767684177726E068-953
chr158417795684178025E068-654
chr158417886184179023E068182
chr158418098484181041E0682305
chr158418119184181597E0682512
chr158418164184181685E0682962
chr158418177584181835E0683096
chr158418229584182345E0683616
chr158418355184183667E0684872
chr158418369084183740E0685011
chr158419020884190352E06811529
chr158419079384190843E06812114
chr158420144284201566E06822763
chr158420194884202149E06823269
chr158420469584204745E06826016
chr158421535184215541E06836672
chr158421807684218360E06839397
chr158421837184218878E06839692
chr158421895284219022E06840273
chr158422587584226013E06847196
chr158422637784226427E06847698
chr158422700984227181E06848330
chr158422780584227845E06849126
chr158413090884131111E069-47568
chr158413116384131355E069-47324
chr158413138184131463E069-47216
chr158413304184133091E069-45588
chr158414019584140252E069-38427
chr158414038784140446E069-38233
chr158414173384141783E069-36896
chr158414295384143003E069-35676
chr158414321284143262E069-35417
chr158414336184143754E069-34925
chr158414401484144086E069-34593
chr158414432284144563E069-34116
chr158414478884144840E069-33839
chr158414495084145285E069-33394
chr158414545084146705E069-31974
chr158414674384146947E069-31732
chr158414697784147027E069-31652
chr158414710684147158E069-31521
chr158414719784147274E069-31405
chr158414742184147492E069-31187
chr158414811784148177E069-30502
chr158414824284148380E069-30299
chr158415003484150321E069-28358
chr158415033484150488E069-28191
chr158415052484150592E069-28087
chr158415075084150800E069-27879
chr158415637384156510E069-22169
chr158415705884157152E069-21527
chr158415739584157445E069-21234
chr158415768884157779E069-20900
chr158415797684158069E069-20610
chr158415979584159861E069-18818
chr158416025384160539E069-18140
chr158416126084161381E069-17298
chr158416146584161515E069-17164
chr158416155784161621E069-17058
chr158417297484173035E069-5644
chr158417306184173547E069-5132
chr158417383584173894E069-4785
chr158417399984174049E069-4630
chr158417410484174154E069-4525
chr158417433984174389E069-4290
chr158417514684175322E069-3357
chr158417767684177726E069-953
chr158417795684178025E069-654
chr158417886184179023E069182
chr158418098484181041E0692305
chr158418119184181597E0692512
chr158418355184183667E0694872
chr158418369084183740E0695011
chr158418397584184314E0695296
chr158418880984188869E06910130
chr158418889984188952E06910220
chr158418975884189808E06911079
chr158419020884190352E06911529
chr158419079384190843E06912114
chr158419098384191043E06912304
chr158419874684198800E06920067
chr158420243484202751E06923755
chr158420284384203196E06924164
chr158421497684215304E06936297
chr158421535184215541E06936672
chr158421807684218360E06939397
chr158421837184218878E06939692
chr158421895284219022E06940273
chr158422414984224226E06945470
chr158422454084224594E06945861
chr158422637784226427E06947698
chr158422700984227181E06948330
chr158422780584227845E06949126
chr158422801484228636E06949335
chr158413138184131463E071-47216
chr158413173384132131E071-46548
chr158413304184133091E071-45588
chr158414019584140252E071-38427
chr158414038784140446E071-38233
chr158414173384141783E071-36896
chr158414295384143003E071-35676
chr158414321284143262E071-35417
chr158414336184143754E071-34925
chr158414401484144086E071-34593
chr158414432284144563E071-34116
chr158414478884144840E071-33839
chr158414495084145285E071-33394
chr158414545084146705E071-31974
chr158414674384146947E071-31732
chr158414742184147492E071-31187
chr158414811784148177E071-30502
chr158414824284148380E071-30299
chr158414841584148524E071-30155
chr158415075084150800E071-27879
chr158415637384156510E071-22169
chr158415705884157152E071-21527
chr158415739584157445E071-21234
chr158415768884157779E071-20900
chr158415797684158069E071-20610
chr158415979584159861E071-18818
chr158416025384160539E071-18140
chr158416126084161381E071-17298
chr158416146584161515E071-17164
chr158416155784161621E071-17058
chr158416262484162694E071-15985
chr158416869984168787E071-9892
chr158416880384168863E071-9816
chr158416890584168955E071-9724
chr158416923984169368E071-9311
chr158417247084172575E071-6104
chr158417276384172843E071-5836
chr158417297484173035E071-5644
chr158417306184173547E071-5132
chr158417767684177726E071-953
chr158417795684178025E071-654
chr158417886184179023E071182
chr158418098484181041E0712305
chr158418119184181597E0712512
chr158418164184181685E0712962
chr158418177584181835E0713096
chr158418187184181952E0713192
chr158418229584182345E0713616
chr158418355184183667E0714872
chr158418369084183740E0715011
chr158418397584184314E0715296
chr158418579984185939E0717120
chr158418604584186095E0717366
chr158418708884187168E0718409
chr158418772984187791E0719050
chr158418880984188869E07110130
chr158418889984188952E07110220
chr158418975884189808E07111079
chr158419212984192179E07113450
chr158419225784192412E07113578
chr158419277284192906E07114093
chr158419874684198800E07120067
chr158420194884202149E07123269
chr158420243484202751E07123755
chr158420284384203196E07124164
chr158421468384214798E07136004
chr158421497684215304E07136297
chr158421535184215541E07136672
chr158421807684218360E07139397
chr158421837184218878E07139692
chr158421895284219022E07140273
chr158422007384220171E07141394
chr158422025684220315E07141577
chr158422032284220410E07141643
chr158422414984224226E07145470
chr158422454084224594E07145861
chr158422587584226013E07147196
chr158422637784226427E07147698
chr158422700984227181E07148330
chr158422780584227845E07149126
chr158422801484228636E07149335
chr158413425584134335E072-44344
chr158414019584140252E072-38427
chr158414038784140446E072-38233
chr158414173384141783E072-36896
chr158414295384143003E072-35676
chr158414321284143262E072-35417
chr158414336184143754E072-34925
chr158414401484144086E072-34593
chr158414432284144563E072-34116
chr158414478884144840E072-33839
chr158414495084145285E072-33394
chr158414545084146705E072-31974
chr158414674384146947E072-31732
chr158414697784147027E072-31652
chr158414710684147158E072-31521
chr158414719784147274E072-31405
chr158414742184147492E072-31187
chr158414811784148177E072-30502
chr158414824284148380E072-30299
chr158414841584148524E072-30155
chr158414932084149446E072-29233
chr158415003484150321E072-28358
chr158415033484150488E072-28191
chr158415637384156510E072-22169
chr158415705884157152E072-21527
chr158415739584157445E072-21234
chr158415768884157779E072-20900
chr158415797684158069E072-20610
chr158415979584159861E072-18818
chr158416025384160539E072-18140
chr158416126084161381E072-17298
chr158417767684177726E072-953
chr158417795684178025E072-654
chr158417996284180092E0721283
chr158418098484181041E0722305
chr158418119184181597E0722512
chr158418164184181685E0722962
chr158418177584181835E0723096
chr158418187184181952E0723192
chr158418229584182345E0723616
chr158418355184183667E0724872
chr158418369084183740E0725011
chr158418397584184314E0725296
chr158418708884187168E0728409
chr158418772984187791E0729050
chr158418880984188869E07210130
chr158418889984188952E07210220
chr158418975884189808E07211079
chr158419020884190352E07211529
chr158419079384190843E07212114
chr158419098384191043E07212304
chr158420194884202149E07223269
chr158420243484202751E07223755
chr158420284384203196E07224164
chr158421497684215304E07236297
chr158421535184215541E07236672
chr158422244184222573E07243762
chr158422414984224226E07245470
chr158422454084224594E07245861
chr158422565384225693E07246974
chr158422569984225749E07247020
chr158422587584226013E07247196
chr158422637784226427E07247698
chr158422700984227181E07248330
chr158422780584227845E07249126
chr158422801484228636E07249335
chr158414038784140446E073-38233
chr158414173384141783E073-36896
chr158414336184143754E073-34925
chr158414545084146705E073-31974
chr158414674384146947E073-31732
chr158414697784147027E073-31652
chr158414710684147158E073-31521
chr158414719784147274E073-31405
chr158414742184147492E073-31187
chr158415705884157152E073-21527
chr158415739584157445E073-21234
chr158415768884157779E073-20900
chr158415979584159861E073-18818
chr158416025384160539E073-18140
chr158417767684177726E073-953
chr158417795684178025E073-654
chr158422565384225693E07346974
chr158422569984225749E07347020
chr158422587584226013E07347196
chr158422637784226427E07347698
chr158422700984227181E07348330
chr158422780584227845E07349126
chr158413090884131111E074-47568
chr158413116384131355E074-47324
chr158413138184131463E074-47216
chr158414019584140252E074-38427
chr158414038784140446E074-38233
chr158414173384141783E074-36896
chr158414295384143003E074-35676
chr158414321284143262E074-35417
chr158414336184143754E074-34925
chr158414545084146705E074-31974
chr158414674384146947E074-31732
chr158414697784147027E074-31652
chr158414710684147158E074-31521
chr158414719784147274E074-31405
chr158414742184147492E074-31187
chr158414811784148177E074-30502
chr158414824284148380E074-30299
chr158415003484150321E074-28358
chr158415033484150488E074-28191
chr158415052484150592E074-28087
chr158415637384156510E074-22169
chr158415705884157152E074-21527
chr158415739584157445E074-21234
chr158415768884157779E074-20900
chr158415797684158069E074-20610
chr158415979584159861E074-18818
chr158416025384160539E074-18140
chr158416126084161381E074-17298
chr158416146584161515E074-17164
chr158416155784161621E074-17058
chr158416262484162694E074-15985
chr158416869984168787E074-9892
chr158417247084172575E074-6104
chr158417276384172843E074-5836
chr158417297484173035E074-5644
chr158417514684175322E074-3357
chr158417767684177726E074-953
chr158417795684178025E074-654
chr158418098484181041E0742305
chr158418119184181597E0742512
chr158419020884190352E07411529
chr158419079384190843E07412114
chr158419098384191043E07412304
chr158420194884202149E07423269
chr158420243484202751E07423755
chr158420284384203196E07424164
chr158420357284203649E07424893
chr158420580084206092E07427121
chr158421497684215304E07436297
chr158421535184215541E07436672
chr158421807684218360E07439397
chr158421837184218878E07439692
chr158421895284219022E07440273
chr158422414984224226E07445470
chr158422454084224594E07445861
chr158422487684224926E07446197
chr158422565384225693E07446974
chr158422569984225749E07447020
chr158422587584226013E07447196
chr158422637784226427E07447698
chr158422700984227181E07448330
chr158422780584227845E07449126
chr158414295384143003E081-35676
chr158414321284143262E081-35417
chr158414336184143754E081-34925
chr158414545084146705E081-31974
chr158414674384146947E081-31732
chr158414697784147027E081-31652
chr158414710684147158E081-31521
chr158414719784147274E081-31405
chr158415003484150321E081-28358
chr158415033484150488E081-28191
chr158420580084206092E08127121
chr158420616584206379E08127486
chr158420642884206652E08127749
chr158420666084206735E08127981
chr158420681484206868E08128135
chr158420693084207020E08128251
chr158420753584207691E08128856
chr158422007384220171E08141394
chr158422025684220315E08141577
chr158422032284220410E08141643
chr158422414984224226E08145470
chr158422454084224594E08145861
chr158414173384141783E082-36896
chr158414295384143003E082-35676
chr158414321284143262E082-35417
chr158414336184143754E082-34925
chr158414401484144086E082-34593
chr158414432284144563E082-34116
chr158414478884144840E082-33839
chr158414495084145285E082-33394
chr158414545084146705E082-31974
chr158414674384146947E082-31732
chr158414697784147027E082-31652
chr158414710684147158E082-31521
chr158414719784147274E082-31405
chr158415335584153960E082-24719
chr158421497684215304E08236297
chr158421535184215541E08236672
chr158421807684218360E08239397