rs2683267

Homo sapiens
C>T
GRIN2C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0321 (9582/29812,GnomAD)
C=0359 (10459/29118,TOPMED)
C=0368 (1845/5008,1000G)
C=0269 (1038/3854,ALSPAC)
C=0252 (933/3708,TWINSUK)
chr17:74858860 (GRCh38.p7) (17q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.74858860C>T
GRCh37.p13 chr 17NC_000017.10:g.72854983T>C

Gene: GRIN2C, glutamate ionotropic receptor NMDA type subunit 2C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIN2C transcript variant 1NM_000835.4:c.N/AIntron Variant
GRIN2C transcript variant 2NM_001278553.1:c.N/AIntron Variant
GRIN2C transcript variant 3NR_103735.1:n.N/AIntron Variant
GRIN2C transcript variant X7XM_011524689.2:c.N/AIntron Variant
GRIN2C transcript variant X5XM_006721845.3:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X6XM_006721846.3:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X2XM_011524686.2:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X3XM_011524687.2:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X4XM_011524688.2:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X8XM_011524692.2:c.N/AGenic Upstream Transcript Variant
GRIN2C transcript variant X1XM_017024544.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.508C==0.492
1000GenomesAmericanSub694T=0.790C==0.210
1000GenomesEast AsianSub1008T=0.530C==0.470
1000GenomesEuropeSub1006T=0.727C==0.273
1000GenomesGlobalStudy-wide5008T=0.632C==0.368
1000GenomesSouth AsianSub978T=0.690C==0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.731C==0.269
The Genome Aggregation DatabaseAfricanSub8676T=0.533C==0.467
The Genome Aggregation DatabaseAmericanSub836T=0.800C==0.200
The Genome Aggregation DatabaseEast AsianSub1612T=0.481C==0.519
The Genome Aggregation DatabaseEuropeSub18386T=0.760C==0.239
The Genome Aggregation DatabaseGlobalStudy-wide29812T=0.678C==0.321
The Genome Aggregation DatabaseOtherSub302T=0.610C==0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.640C==0.359
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.748C==0.252
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
rs26832670.00032alcohol dependence20201924

eQTL of rs2683267 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:72854983FDXRENSG00000161513.7T>C1.8977e-7-14173Cortex

meQTL of rs2683267 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 )
chr177280624572806407E067-48576
chr177280660572806672E067-48311
chr177280671572806853E067-48130
chr177280687072807137E067-47846
chr177280716972807499E067-47484
chr177280825172808713E067-46270
chr177280878572809249E067-45734
chr177280928272809459E067-45524
chr177280946572809552E067-45431
chr177280993772810085E067-44898
chr177281152572811636E067-43347
chr177281170072811980E067-43003
chr177281201572812109E067-42874
chr177281216972812442E067-42541
chr177281693372817003E067-37980
chr177281717772817263E067-37720
chr177281738372817433E067-37550
chr177281743472817488E067-37495
chr177281750172817572E067-37411
chr177281765472817726E067-37257
chr177281782872817878E067-37105
chr177281796572818100E067-36883
chr177281828572818355E067-36628
chr177281836372818437E067-36546
chr177281851472818747E067-36236
chr177281877772818834E067-36149
chr177281973572819794E067-35189
chr177281986072819920E067-35063
chr177282005372820103E067-34880
chr177282013472820174E067-34809
chr177282022672820451E067-34532
chr177282051772820826E067-34157
chr177282085272821007E067-33976
chr177282108272821287E067-33696
chr177282136772821452E067-33531
chr177282159272821642E067-33341
chr177282166772821861E067-33122
chr177282190572821965E067-33018
chr177282214172822416E067-32567
chr177283704572837739E067-17244
chr177283774072838106E067-16877
chr177283816472839396E067-15587
chr177285208672852196E067-2787
chr177285221872852383E067-2600
chr177286789372868134E06712910
chr177280503372805191E068-49792
chr177280527072805427E068-49556
chr177280624572806407E068-48576
chr177280660572806672E068-48311
chr177280671572806853E068-48130
chr177280687072807137E068-47846
chr177280716972807499E068-47484
chr177280928272809459E068-45524
chr177280946572809552E068-45431
chr177280993772810085E068-44898
chr177281693372817003E068-37980
chr177281717772817263E068-37720
chr177281738372817433E068-37550
chr177281743472817488E068-37495
chr177281750172817572E068-37411
chr177281765472817726E068-37257
chr177281782872817878E068-37105
chr177281796572818100E068-36883
chr177281828572818355E068-36628
chr177281836372818437E068-36546
chr177281851472818747E068-36236
chr177281877772818834E068-36149
chr177281884072819046E068-35937
chr177281907472819673E068-35310
chr177281973572819794E068-35189
chr177281986072819920E068-35063
chr177282005372820103E068-34880
chr177282013472820174E068-34809
chr177282022672820451E068-34532
chr177282051772820826E068-34157
chr177282085272821007E068-33976
chr177282108272821287E068-33696
chr177282136772821452E068-33531
chr177282159272821642E068-33341
chr177282166772821861E068-33122
chr177282190572821965E068-33018
chr177282214172822416E068-32567
chr177282259172822787E068-32196
chr177282315872823224E068-31759
chr177282335672823436E068-31547
chr177282832472828404E068-26579
chr177282865472828803E068-26180
chr177282883072828914E068-26069
chr177282904072829099E068-25884
chr177282930072829350E068-25633
chr177282956972829981E068-25002
chr177283608372837037E068-17946
chr177283704572837739E068-17244
chr177283774072838106E068-16877
chr177283816472839396E068-15587
chr177280503372805191E069-49792
chr177280624572806407E069-48576
chr177280660572806672E069-48311
chr177280671572806853E069-48130
chr177280687072807137E069-47846
chr177280716972807499E069-47484
chr177280825172808713E069-46270
chr177280878572809249E069-45734
chr177280928272809459E069-45524
chr177280946572809552E069-45431
chr177280993772810085E069-44898
chr177281128972811411E069-43572
chr177281152572811636E069-43347
chr177281170072811980E069-43003
chr177281201572812109E069-42874
chr177281216972812442E069-42541
chr177281693372817003E069-37980
chr177281717772817263E069-37720
chr177281738372817433E069-37550
chr177281743472817488E069-37495
chr177281750172817572E069-37411
chr177281765472817726E069-37257
chr177281782872817878E069-37105
chr177281796572818100E069-36883
chr177281828572818355E069-36628
chr177281836372818437E069-36546
chr177281851472818747E069-36236
chr177281877772818834E069-36149
chr177281884072819046E069-35937
chr177281907472819673E069-35310
chr177281973572819794E069-35189
chr177281986072819920E069-35063
chr177282005372820103E069-34880
chr177282013472820174E069-34809
chr177282022672820451E069-34532
chr177282051772820826E069-34157
chr177282085272821007E069-33976
chr177282108272821287E069-33696
chr177282136772821452E069-33531
chr177282159272821642E069-33341
chr177282166772821861E069-33122
chr177282190572821965E069-33018
chr177282214172822416E069-32567
chr177283608372837037E069-17946
chr177283704572837739E069-17244
chr177283774072838106E069-16877
chr177283816472839396E069-15587
chr177285221872852383E069-2600
chr177285296872853008E069-1975
chr177286064272861866E0695659
chr177286724972867874E06912266
chr177286789372868134E06912910
chr177281796572818100E070-36883
chr177281828572818355E070-36628
chr177281836372818437E070-36546
chr177281851472818747E070-36236
chr177281877772818834E070-36149
chr177281884072819046E070-35937
chr177281907472819673E070-35310
chr177281973572819794E070-35189
chr177281986072819920E070-35063
chr177282005372820103E070-34880
chr177282013472820174E070-34809
chr177282022672820451E070-34532
chr177282051772820826E070-34157
chr177282085272821007E070-33976
chr177282108272821287E070-33696
chr177282136772821452E070-33531
chr177282159272821642E070-33341
chr177282166772821861E070-33122
chr177282190572821965E070-33018
chr177282214172822416E070-32567
chr177283562372835690E070-19293
chr177283608372837037E070-17946
chr177283704572837739E070-17244
chr177283774072838106E070-16877
chr177283816472839396E070-15587
chr177285208672852196E070-2787
chr177286789372868134E07012910
chr177280503372805191E071-49792
chr177280527072805427E071-49556
chr177280598372806023E071-48960
chr177280624572806407E071-48576
chr177280660572806672E071-48311
chr177280671572806853E071-48130
chr177280687072807137E071-47846
chr177280716972807499E071-47484
chr177280825172808713E071-46270
chr177280878572809249E071-45734
chr177280928272809459E071-45524
chr177280946572809552E071-45431
chr177280993772810085E071-44898
chr177281072172810828E071-44155
chr177281170072811980E071-43003
chr177281201572812109E071-42874
chr177281216972812442E071-42541
chr177281660172816701E071-38282
chr177281693372817003E071-37980
chr177281717772817263E071-37720
chr177281738372817433E071-37550
chr177281743472817488E071-37495
chr177281750172817572E071-37411
chr177281765472817726E071-37257
chr177281782872817878E071-37105
chr177281796572818100E071-36883
chr177281828572818355E071-36628
chr177281836372818437E071-36546
chr177281851472818747E071-36236
chr177281877772818834E071-36149
chr177281884072819046E071-35937
chr177281907472819673E071-35310
chr177281986072819920E071-35063
chr177282005372820103E071-34880
chr177282013472820174E071-34809
chr177282022672820451E071-34532
chr177282051772820826E071-34157
chr177282085272821007E071-33976
chr177282108272821287E071-33696
chr177282136772821452E071-33531
chr177282159272821642E071-33341
chr177282166772821861E071-33122
chr177282190572821965E071-33018
chr177282214172822416E071-32567
chr177282259172822787E071-32196
chr177282315872823224E071-31759
chr177283008372830717E071-24266
chr177283074872830947E071-24036
chr177283336272833438E071-21545
chr177283346172833544E071-21439
chr177283363472833689E071-21294
chr177283372572833781E071-21202
chr177283388272833976E071-21007
chr177283608372837037E071-17946
chr177283704572837739E071-17244
chr177283774072838106E071-16877
chr177285208672852196E071-2787
chr177285221872852383E071-2600
chr177286724972867874E07112266
chr177286789372868134E07112910
chr177287902072879356E07124037
chr177288471472884928E07129731
chr177288497072885029E07129987
chr177280503372805191E072-49792
chr177280527072805427E072-49556
chr177280598372806023E072-48960
chr177280624572806407E072-48576
chr177280660572806672E072-48311
chr177280671572806853E072-48130
chr177280687072807137E072-47846
chr177280716972807499E072-47484
chr177280825172808713E072-46270
chr177280878572809249E072-45734
chr177280928272809459E072-45524
chr177280946572809552E072-45431
chr177280993772810085E072-44898
chr177281072172810828E072-44155
chr177281201572812109E072-42874
chr177281216972812442E072-42541
chr177281245572812546E072-42437
chr177281738372817433E072-37550
chr177281743472817488E072-37495
chr177281750172817572E072-37411
chr177281765472817726E072-37257
chr177281828572818355E072-36628
chr177281836372818437E072-36546
chr177281851472818747E072-36236
chr177281877772818834E072-36149
chr177281884072819046E072-35937
chr177281907472819673E072-35310
chr177281973572819794E072-35189
chr177281986072819920E072-35063
chr177282005372820103E072-34880
chr177282013472820174E072-34809
chr177282022672820451E072-34532
chr177282051772820826E072-34157
chr177282085272821007E072-33976
chr177282108272821287E072-33696
chr177282136772821452E072-33531
chr177282159272821642E072-33341
chr177282166772821861E072-33122
chr177282190572821965E072-33018
chr177282214172822416E072-32567
chr177282259172822787E072-32196
chr177282315872823224E072-31759
chr177282335672823436E072-31547
chr177283008372830717E072-24266
chr177283074872830947E072-24036
chr177283704572837739E072-17244
chr177283774072838106E072-16877
chr177283816472839396E072-15587
chr177285208672852196E072-2787
chr177285221872852383E072-2600
chr177286789372868134E07212910
chr177280624572806407E073-48576
chr177280660572806672E073-48311
chr177280671572806853E073-48130
chr177280687072807137E073-47846
chr177280716972807499E073-47484
chr177280825172808713E073-46270
chr177280878572809249E073-45734
chr177280928272809459E073-45524
chr177281201572812109E073-42874
chr177281216972812442E073-42541
chr177281717772817263E073-37720
chr177281738372817433E073-37550
chr177281743472817488E073-37495
chr177281750172817572E073-37411
chr177281765472817726E073-37257
chr177281782872817878E073-37105
chr177281796572818100E073-36883
chr177281828572818355E073-36628
chr177281836372818437E073-36546
chr177281907472819673E073-35310
chr177281973572819794E073-35189
chr177281986072819920E073-35063
chr177282005372820103E073-34880
chr177282013472820174E073-34809
chr177282022672820451E073-34532
chr177282051772820826E073-34157
chr177282085272821007E073-33976
chr177282108272821287E073-33696
chr177282136772821452E073-33531
chr177282159272821642E073-33341
chr177282166772821861E073-33122
chr177282190572821965E073-33018
chr177282214172822416E073-32567
chr177282259172822787E073-32196
chr177282315872823224E073-31759
chr177283074872830947E073-24036
chr177283103472831150E073-23833
chr177283363472833689E073-21294
chr177283372572833781E073-21202
chr177283388272833976E073-21007
chr177283418572834235E073-20748
chr177283704572837739E073-17244
chr177283774072838106E073-16877
chr177283816472839396E073-15587
chr177286724972867874E07312266
chr177280624572806407E074-48576
chr177280660572806672E074-48311
chr177280671572806853E074-48130
chr177280687072807137E074-47846
chr177280716972807499E074-47484
chr177280825172808713E074-46270
chr177280878572809249E074-45734
chr177280928272809459E074-45524
chr177280946572809552E074-45431
chr177280993772810085E074-44898
chr177281072172810828E074-44155
chr177281087372810977E074-44006
chr177281099372811081E074-43902
chr177281113772811213E074-43770
chr177281128972811411E074-43572
chr177281693372817003E074-37980
chr177281717772817263E074-37720
chr177281738372817433E074-37550
chr177281743472817488E074-37495
chr177281750172817572E074-37411
chr177281765472817726E074-37257
chr177281782872817878E074-37105
chr177281796572818100E074-36883
chr177281828572818355E074-36628
chr177281836372818437E074-36546
chr177281851472818747E074-36236
chr177281877772818834E074-36149
chr177281884072819046E074-35937
chr177281907472819673E074-35310
chr177281973572819794E074-35189
chr177281986072819920E074-35063
chr177282005372820103E074-34880
chr177282013472820174E074-34809
chr177282022672820451E074-34532
chr177282051772820826E074-34157
chr177282085272821007E074-33976
chr177282108272821287E074-33696
chr177282136772821452E074-33531
chr177282159272821642E074-33341
chr177282166772821861E074-33122
chr177282190572821965E074-33018
chr177282214172822416E074-32567
chr177282956972829981E074-25002
chr177283008372830717E074-24266
chr177283608372837037E074-17946
chr177283704572837739E074-17244
chr177283774072838106E074-16877
chr177283816472839396E074-15587
chr177286789372868134E07412910
chr177280503372805191E081-49792
chr177280825172808713E081-46270
chr177280878572809249E081-45734
chr177280928272809459E081-45524
chr177280946572809552E081-45431
chr177280993772810085E081-44898
chr177281738372817433E081-37550
chr177281743472817488E081-37495
chr177281750172817572E081-37411
chr177281765472817726E081-37257
chr177281782872817878E081-37105
chr177281796572818100E081-36883
chr177281828572818355E081-36628
chr177281836372818437E081-36546
chr177281851472818747E081-36236
chr177281877772818834E081-36149
chr177281884072819046E081-35937
chr177281907472819673E081-35310
chr177281973572819794E081-35189
chr177281986072819920E081-35063
chr177282005372820103E081-34880
chr177282013472820174E081-34809
chr177282022672820451E081-34532
chr177282051772820826E081-34157
chr177282085272821007E081-33976
chr177282108272821287E081-33696
chr177282136772821452E081-33531
chr177282159272821642E081-33341
chr177282166772821861E081-33122
chr177282190572821965E081-33018
chr177282214172822416E081-32567
chr177282259172822787E081-32196
chr177282315872823224E081-31759
chr177283608372837037E081-17946
chr177283704572837739E081-17244
chr177283774072838106E081-16877
chr177283816472839396E081-15587
chr177285208672852196E081-2787
chr177285221872852383E081-2600
chr177285246772852588E081-2395
chr177285296872853008E081-1975
chr177285335372853519E081-1464
chr177285357072853714E081-1269
chr177285386772853935E081-1048
chr177286789372868134E08112910
chr177287153072872515E08116547
chr177287253872872645E08117555
chr177280825172808713E082-46270
chr177280878572809249E082-45734
chr177280928272809459E082-45524
chr177280946572809552E082-45431
chr177280993772810085E082-44898
chr177281782872817878E082-37105
chr177281796572818100E082-36883
chr177281828572818355E082-36628
chr177281836372818437E082-36546
chr177282005372820103E082-34880
chr177282013472820174E082-34809
chr177282022672820451E082-34532
chr177282051772820826E082-34157
chr177282085272821007E082-33976
chr177282108272821287E082-33696
chr177282136772821452E082-33531
chr177282159272821642E082-33341
chr177282166772821861E082-33122
chr177282190572821965E082-33018
chr177282214172822416E082-32567
chr177282259172822787E082-32196
chr177283704572837739E082-17244
chr177283774072838106E082-16877
chr177283816472839396E082-15587
chr177285208672852196E082-2787
chr177285221872852383E082-2600
chr177285246772852588E082-2395
chr177285296872853008E082-1975
chr177285335372853519E082-1464
chr177285357072853714E082-1269
chr177287135472871420E08216371
chr177287153072872515E08216547
chr177287253872872645E08217555










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177286815372870509E06713170
chr177288925772889317E06734274
chr177288939272889442E06734409
chr177288948572889990E06734502
chr177285565072855757E068667
chr177285750372857569E0682520
chr177286815372870509E06813170
chr177288925772889317E06834274
chr177288939272889442E06834409
chr177288948572889990E06834502
chr177285565072855757E069667
chr177285583772857502E069854
chr177286815372870509E06913170
chr177288925772889317E06934274
chr177288939272889442E06934409
chr177288948572889990E06934502
chr177284844672849301E070-5682
chr177286815372870509E07013170
chr177288948572889990E07034502
chr177285565072855757E071667
chr177286815372870509E07113170
chr177288925772889317E07134274
chr177285565072855757E072667
chr177285583772857502E072854
chr177286815372870509E07213170
chr177288925772889317E07234274
chr177288939272889442E07234409
chr177288948572889990E07234502
chr177285565072855757E073667
chr177285583772857502E073854
chr177285750372857569E0732520
chr177286815372870509E07313170
chr177288925772889317E07334274
chr177288939272889442E07334409
chr177288948572889990E07334502
chr177286815372870509E07413170
chr177284844672849301E082-5682
chr177285565072855757E082667
chr177285583772857502E082854
chr177285750372857569E0822520
chr177286815372870509E08213170
chr177288948572889990E08234502