rs690533

Homo sapiens
G>A
GRIN2C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0264 (7890/29808,GnomAD)
G=0264 (7695/29118,TOPMED)
G=0280 (1403/5008,1000G)
G=0267 (1030/3854,ALSPAC)
G=0251 (931/3708,TWINSUK)
chr17:74854034 (GRCh38.p7) (17q25.1)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.74854034G>A
GRCh37.p13 chr 17NC_000017.10:g.72850173A>G

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 X5XM_006721845.3:c.N/AIntron Variant
GRIN2C transcript variant X6XM_006721846.3:c.N/AIntron Variant
GRIN2C transcript variant X2XM_011524686.2:c.N/AIntron Variant
GRIN2C transcript variant X3XM_011524687.2:c.N/AIntron Variant
GRIN2C transcript variant X4XM_011524688.2:c.N/AIntron Variant
GRIN2C transcript variant X7XM_011524689.2:c.N/AIntron Variant
GRIN2C transcript variant X8XM_011524692.2:c.N/AIntron Variant
GRIN2C transcript variant X1XM_017024544.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.730G==0.270
1000GenomesAmericanSub694A=0.810G==0.190
1000GenomesEast AsianSub1008A=0.618G==0.382
1000GenomesEuropeSub1006A=0.731G==0.269
1000GenomesGlobalStudy-wide5008A=0.720G==0.280
1000GenomesSouth AsianSub978A=0.740G==0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.733G==0.267
The Genome Aggregation DatabaseAfricanSub8694A=0.707G==0.293
The Genome Aggregation DatabaseAmericanSub836A=0.810G==0.190
The Genome Aggregation DatabaseEast AsianSub1614A=0.574G==0.426
The Genome Aggregation DatabaseEuropeSub18362A=0.761G==0.239
The Genome Aggregation DatabaseGlobalStudy-wide29808A=0.735G==0.264
The Genome Aggregation DatabaseOtherSub302A=0.630G==0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.735G==0.264
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.749G==0.251
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
18444252Neurotransmission and bipolar disorder: a systematic family-based association study.Shi JAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs6905330.00085alcohol dependence20201924

eQTL of rs690533 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:72850173FDXRENSG00000161513.7A>G1.8977e-7-18983Cortex

meQTL of rs690533 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 )
chr177280335672803406E067-46767
chr177280353972803873E067-46300
chr177280417772804390E067-45783
chr177280444972804727E067-45446
chr177280497472805029E067-45144
chr177280624572806407E067-43766
chr177280660572806672E067-43501
chr177280671572806853E067-43320
chr177280687072807137E067-43036
chr177280716972807499E067-42674
chr177280825172808713E067-41460
chr177280878572809249E067-40924
chr177280928272809459E067-40714
chr177280946572809552E067-40621
chr177280993772810085E067-40088
chr177281152572811636E067-38537
chr177281170072811980E067-38193
chr177281201572812109E067-38064
chr177281216972812442E067-37731
chr177281693372817003E067-33170
chr177281717772817263E067-32910
chr177281738372817433E067-32740
chr177281743472817488E067-32685
chr177281750172817572E067-32601
chr177281765472817726E067-32447
chr177281782872817878E067-32295
chr177281796572818100E067-32073
chr177281828572818355E067-31818
chr177281836372818437E067-31736
chr177281851472818747E067-31426
chr177281877772818834E067-31339
chr177281973572819794E067-30379
chr177281986072819920E067-30253
chr177282005372820103E067-30070
chr177282013472820174E067-29999
chr177282022672820451E067-29722
chr177282051772820826E067-29347
chr177282085272821007E067-29166
chr177282108272821287E067-28886
chr177282136772821452E067-28721
chr177282159272821642E067-28531
chr177282166772821861E067-28312
chr177282190572821965E067-28208
chr177282214172822416E067-27757
chr177283704572837739E067-12434
chr177283774072838106E067-12067
chr177283816472839396E067-10777
chr177285208672852196E0671913
chr177285221872852383E0672045
chr177286789372868134E06717720
chr177280305872803108E068-47065
chr177280335672803406E068-46767
chr177280353972803873E068-46300
chr177280417772804390E068-45783
chr177280444972804727E068-45446
chr177280497472805029E068-45144
chr177280503372805191E068-44982
chr177280527072805427E068-44746
chr177280624572806407E068-43766
chr177280660572806672E068-43501
chr177280671572806853E068-43320
chr177280687072807137E068-43036
chr177280716972807499E068-42674
chr177280928272809459E068-40714
chr177280946572809552E068-40621
chr177280993772810085E068-40088
chr177281693372817003E068-33170
chr177281717772817263E068-32910
chr177281738372817433E068-32740
chr177281743472817488E068-32685
chr177281750172817572E068-32601
chr177281765472817726E068-32447
chr177281782872817878E068-32295
chr177281796572818100E068-32073
chr177281828572818355E068-31818
chr177281836372818437E068-31736
chr177281851472818747E068-31426
chr177281877772818834E068-31339
chr177281884072819046E068-31127
chr177281907472819673E068-30500
chr177281973572819794E068-30379
chr177281986072819920E068-30253
chr177282005372820103E068-30070
chr177282013472820174E068-29999
chr177282022672820451E068-29722
chr177282051772820826E068-29347
chr177282085272821007E068-29166
chr177282108272821287E068-28886
chr177282136772821452E068-28721
chr177282159272821642E068-28531
chr177282166772821861E068-28312
chr177282190572821965E068-28208
chr177282214172822416E068-27757
chr177282259172822787E068-27386
chr177282315872823224E068-26949
chr177282335672823436E068-26737
chr177282832472828404E068-21769
chr177282865472828803E068-21370
chr177282883072828914E068-21259
chr177282904072829099E068-21074
chr177282930072829350E068-20823
chr177282956972829981E068-20192
chr177283608372837037E068-13136
chr177283704572837739E068-12434
chr177283774072838106E068-12067
chr177283816472839396E068-10777
chr177280353972803873E069-46300
chr177280417772804390E069-45783
chr177280444972804727E069-45446
chr177280497472805029E069-45144
chr177280503372805191E069-44982
chr177280624572806407E069-43766
chr177280660572806672E069-43501
chr177280671572806853E069-43320
chr177280687072807137E069-43036
chr177280716972807499E069-42674
chr177280825172808713E069-41460
chr177280878572809249E069-40924
chr177280928272809459E069-40714
chr177280946572809552E069-40621
chr177280993772810085E069-40088
chr177281128972811411E069-38762
chr177281152572811636E069-38537
chr177281170072811980E069-38193
chr177281201572812109E069-38064
chr177281216972812442E069-37731
chr177281693372817003E069-33170
chr177281717772817263E069-32910
chr177281738372817433E069-32740
chr177281743472817488E069-32685
chr177281750172817572E069-32601
chr177281765472817726E069-32447
chr177281782872817878E069-32295
chr177281796572818100E069-32073
chr177281828572818355E069-31818
chr177281836372818437E069-31736
chr177281851472818747E069-31426
chr177281877772818834E069-31339
chr177281884072819046E069-31127
chr177281907472819673E069-30500
chr177281973572819794E069-30379
chr177281986072819920E069-30253
chr177282005372820103E069-30070
chr177282013472820174E069-29999
chr177282022672820451E069-29722
chr177282051772820826E069-29347
chr177282085272821007E069-29166
chr177282108272821287E069-28886
chr177282136772821452E069-28721
chr177282159272821642E069-28531
chr177282166772821861E069-28312
chr177282190572821965E069-28208
chr177282214172822416E069-27757
chr177283608372837037E069-13136
chr177283704572837739E069-12434
chr177283774072838106E069-12067
chr177283816472839396E069-10777
chr177285221872852383E0692045
chr177285296872853008E0692795
chr177286064272861866E06910469
chr177286724972867874E06917076
chr177286789372868134E06917720
chr177280166072802121E070-48052
chr177280305872803108E070-47065
chr177280335672803406E070-46767
chr177280353972803873E070-46300
chr177280444972804727E070-45446
chr177281796572818100E070-32073
chr177281828572818355E070-31818
chr177281836372818437E070-31736
chr177281851472818747E070-31426
chr177281877772818834E070-31339
chr177281884072819046E070-31127
chr177281907472819673E070-30500
chr177281973572819794E070-30379
chr177281986072819920E070-30253
chr177282005372820103E070-30070
chr177282013472820174E070-29999
chr177282022672820451E070-29722
chr177282051772820826E070-29347
chr177282085272821007E070-29166
chr177282108272821287E070-28886
chr177282136772821452E070-28721
chr177282159272821642E070-28531
chr177282166772821861E070-28312
chr177282190572821965E070-28208
chr177282214172822416E070-27757
chr177283562372835690E070-14483
chr177283608372837037E070-13136
chr177283704572837739E070-12434
chr177283774072838106E070-12067
chr177283816472839396E070-10777
chr177285208672852196E0701913
chr177286789372868134E07017720
chr177280335672803406E071-46767
chr177280353972803873E071-46300
chr177280417772804390E071-45783
chr177280444972804727E071-45446
chr177280497472805029E071-45144
chr177280503372805191E071-44982
chr177280527072805427E071-44746
chr177280598372806023E071-44150
chr177280624572806407E071-43766
chr177280660572806672E071-43501
chr177280671572806853E071-43320
chr177280687072807137E071-43036
chr177280716972807499E071-42674
chr177280825172808713E071-41460
chr177280878572809249E071-40924
chr177280928272809459E071-40714
chr177280946572809552E071-40621
chr177280993772810085E071-40088
chr177281072172810828E071-39345
chr177281170072811980E071-38193
chr177281201572812109E071-38064
chr177281216972812442E071-37731
chr177281660172816701E071-33472
chr177281693372817003E071-33170
chr177281717772817263E071-32910
chr177281738372817433E071-32740
chr177281743472817488E071-32685
chr177281750172817572E071-32601
chr177281765472817726E071-32447
chr177281782872817878E071-32295
chr177281796572818100E071-32073
chr177281828572818355E071-31818
chr177281836372818437E071-31736
chr177281851472818747E071-31426
chr177281877772818834E071-31339
chr177281884072819046E071-31127
chr177281907472819673E071-30500
chr177281986072819920E071-30253
chr177282005372820103E071-30070
chr177282013472820174E071-29999
chr177282022672820451E071-29722
chr177282051772820826E071-29347
chr177282085272821007E071-29166
chr177282108272821287E071-28886
chr177282136772821452E071-28721
chr177282159272821642E071-28531
chr177282166772821861E071-28312
chr177282190572821965E071-28208
chr177282214172822416E071-27757
chr177282259172822787E071-27386
chr177282315872823224E071-26949
chr177283008372830717E071-19456
chr177283074872830947E071-19226
chr177283336272833438E071-16735
chr177283346172833544E071-16629
chr177283363472833689E071-16484
chr177283372572833781E071-16392
chr177283388272833976E071-16197
chr177283608372837037E071-13136
chr177283704572837739E071-12434
chr177283774072838106E071-12067
chr177285208672852196E0711913
chr177285221872852383E0712045
chr177286724972867874E07117076
chr177286789372868134E07117720
chr177287902072879356E07128847
chr177288471472884928E07134541
chr177288497072885029E07134797
chr177280335672803406E072-46767
chr177280353972803873E072-46300
chr177280417772804390E072-45783
chr177280444972804727E072-45446
chr177280497472805029E072-45144
chr177280503372805191E072-44982
chr177280527072805427E072-44746
chr177280598372806023E072-44150
chr177280624572806407E072-43766
chr177280660572806672E072-43501
chr177280671572806853E072-43320
chr177280687072807137E072-43036
chr177280716972807499E072-42674
chr177280825172808713E072-41460
chr177280878572809249E072-40924
chr177280928272809459E072-40714
chr177280946572809552E072-40621
chr177280993772810085E072-40088
chr177281072172810828E072-39345
chr177281201572812109E072-38064
chr177281216972812442E072-37731
chr177281245572812546E072-37627
chr177281738372817433E072-32740
chr177281743472817488E072-32685
chr177281750172817572E072-32601
chr177281765472817726E072-32447
chr177281828572818355E072-31818
chr177281836372818437E072-31736
chr177281851472818747E072-31426
chr177281877772818834E072-31339
chr177281884072819046E072-31127
chr177281907472819673E072-30500
chr177281973572819794E072-30379
chr177281986072819920E072-30253
chr177282005372820103E072-30070
chr177282013472820174E072-29999
chr177282022672820451E072-29722
chr177282051772820826E072-29347
chr177282085272821007E072-29166
chr177282108272821287E072-28886
chr177282136772821452E072-28721
chr177282159272821642E072-28531
chr177282166772821861E072-28312
chr177282190572821965E072-28208
chr177282214172822416E072-27757
chr177282259172822787E072-27386
chr177282315872823224E072-26949
chr177282335672823436E072-26737
chr177283008372830717E072-19456
chr177283074872830947E072-19226
chr177283704572837739E072-12434
chr177283774072838106E072-12067
chr177283816472839396E072-10777
chr177285208672852196E0721913
chr177285221872852383E0722045
chr177286789372868134E07217720
chr177280417772804390E073-45783
chr177280444972804727E073-45446
chr177280624572806407E073-43766
chr177280660572806672E073-43501
chr177280671572806853E073-43320
chr177280687072807137E073-43036
chr177280716972807499E073-42674
chr177280825172808713E073-41460
chr177280878572809249E073-40924
chr177280928272809459E073-40714
chr177281201572812109E073-38064
chr177281216972812442E073-37731
chr177281717772817263E073-32910
chr177281738372817433E073-32740
chr177281743472817488E073-32685
chr177281750172817572E073-32601
chr177281765472817726E073-32447
chr177281782872817878E073-32295
chr177281796572818100E073-32073
chr177281828572818355E073-31818
chr177281836372818437E073-31736
chr177281907472819673E073-30500
chr177281973572819794E073-30379
chr177281986072819920E073-30253
chr177282005372820103E073-30070
chr177282013472820174E073-29999
chr177282022672820451E073-29722
chr177282051772820826E073-29347
chr177282085272821007E073-29166
chr177282108272821287E073-28886
chr177282136772821452E073-28721
chr177282159272821642E073-28531
chr177282166772821861E073-28312
chr177282190572821965E073-28208
chr177282214172822416E073-27757
chr177282259172822787E073-27386
chr177282315872823224E073-26949
chr177283074872830947E073-19226
chr177283103472831150E073-19023
chr177283363472833689E073-16484
chr177283372572833781E073-16392
chr177283388272833976E073-16197
chr177283418572834235E073-15938
chr177283704572837739E073-12434
chr177283774072838106E073-12067
chr177283816472839396E073-10777
chr177286724972867874E07317076
chr177280335672803406E074-46767
chr177280353972803873E074-46300
chr177280417772804390E074-45783
chr177280444972804727E074-45446
chr177280497472805029E074-45144
chr177280624572806407E074-43766
chr177280660572806672E074-43501
chr177280671572806853E074-43320
chr177280687072807137E074-43036
chr177280716972807499E074-42674
chr177280825172808713E074-41460
chr177280878572809249E074-40924
chr177280928272809459E074-40714
chr177280946572809552E074-40621
chr177280993772810085E074-40088
chr177281072172810828E074-39345
chr177281087372810977E074-39196
chr177281099372811081E074-39092
chr177281113772811213E074-38960
chr177281128972811411E074-38762
chr177281693372817003E074-33170
chr177281717772817263E074-32910
chr177281738372817433E074-32740
chr177281743472817488E074-32685
chr177281750172817572E074-32601
chr177281765472817726E074-32447
chr177281782872817878E074-32295
chr177281796572818100E074-32073
chr177281828572818355E074-31818
chr177281836372818437E074-31736
chr177281851472818747E074-31426
chr177281877772818834E074-31339
chr177281884072819046E074-31127
chr177281907472819673E074-30500
chr177281973572819794E074-30379
chr177281986072819920E074-30253
chr177282005372820103E074-30070
chr177282013472820174E074-29999
chr177282022672820451E074-29722
chr177282051772820826E074-29347
chr177282085272821007E074-29166
chr177282108272821287E074-28886
chr177282136772821452E074-28721
chr177282159272821642E074-28531
chr177282166772821861E074-28312
chr177282190572821965E074-28208
chr177282214172822416E074-27757
chr177282956972829981E074-20192
chr177283008372830717E074-19456
chr177283608372837037E074-13136
chr177283704572837739E074-12434
chr177283774072838106E074-12067
chr177283816472839396E074-10777
chr177286789372868134E07417720
chr177280135772801405E081-48768
chr177280151972801620E081-48553
chr177280166072802121E081-48052
chr177280305872803108E081-47065
chr177280335672803406E081-46767
chr177280353972803873E081-46300
chr177280417772804390E081-45783
chr177280444972804727E081-45446
chr177280497472805029E081-45144
chr177280503372805191E081-44982
chr177280825172808713E081-41460
chr177280878572809249E081-40924
chr177280928272809459E081-40714
chr177280946572809552E081-40621
chr177280993772810085E081-40088
chr177281738372817433E081-32740
chr177281743472817488E081-32685
chr177281750172817572E081-32601
chr177281765472817726E081-32447
chr177281782872817878E081-32295
chr177281796572818100E081-32073
chr177281828572818355E081-31818
chr177281836372818437E081-31736
chr177281851472818747E081-31426
chr177281877772818834E081-31339
chr177281884072819046E081-31127
chr177281907472819673E081-30500
chr177281973572819794E081-30379
chr177281986072819920E081-30253
chr177282005372820103E081-30070
chr177282013472820174E081-29999
chr177282022672820451E081-29722
chr177282051772820826E081-29347
chr177282085272821007E081-29166
chr177282108272821287E081-28886
chr177282136772821452E081-28721
chr177282159272821642E081-28531
chr177282166772821861E081-28312
chr177282190572821965E081-28208
chr177282214172822416E081-27757
chr177282259172822787E081-27386
chr177282315872823224E081-26949
chr177283608372837037E081-13136
chr177283704572837739E081-12434
chr177283774072838106E081-12067
chr177283816472839396E081-10777
chr177285208672852196E0811913
chr177285221872852383E0812045
chr177285246772852588E0812294
chr177285296872853008E0812795
chr177285335372853519E0813180
chr177285357072853714E0813397
chr177285386772853935E0813694
chr177286789372868134E08117720
chr177287153072872515E08121357
chr177287253872872645E08122365
chr177280305872803108E082-47065
chr177280335672803406E082-46767
chr177280353972803873E082-46300
chr177280417772804390E082-45783
chr177280444972804727E082-45446
chr177280497472805029E082-45144
chr177280825172808713E082-41460
chr177280878572809249E082-40924
chr177280928272809459E082-40714
chr177280946572809552E082-40621
chr177280993772810085E082-40088
chr177281782872817878E082-32295
chr177281796572818100E082-32073
chr177281828572818355E082-31818
chr177281836372818437E082-31736
chr177282005372820103E082-30070
chr177282013472820174E082-29999
chr177282022672820451E082-29722
chr177282051772820826E082-29347
chr177282085272821007E082-29166
chr177282108272821287E082-28886
chr177282136772821452E082-28721
chr177282159272821642E082-28531
chr177282166772821861E082-28312
chr177282190572821965E082-28208
chr177282214172822416E082-27757
chr177282259172822787E082-27386
chr177283704572837739E082-12434
chr177283774072838106E082-12067
chr177283816472839396E082-10777
chr177285208672852196E0821913
chr177285221872852383E0822045
chr177285246772852588E0822294
chr177285296872853008E0822795
chr177285335372853519E0823180
chr177285357072853714E0823397
chr177287135472871420E08221181
chr177287153072872515E08221357
chr177287253872872645E08222365










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177286815372870509E06717980
chr177288925772889317E06739084
chr177288939272889442E06739219
chr177288948572889990E06739312
chr177285565072855757E0685477
chr177285750372857569E0687330
chr177286815372870509E06817980
chr177288925772889317E06839084
chr177288939272889442E06839219
chr177288948572889990E06839312
chr177285565072855757E0695477
chr177285583772857502E0695664
chr177286815372870509E06917980
chr177288925772889317E06939084
chr177288939272889442E06939219
chr177288948572889990E06939312
chr177284844672849301E070-872
chr177286815372870509E07017980
chr177288948572889990E07039312
chr177285565072855757E0715477
chr177286815372870509E07117980
chr177288925772889317E07139084
chr177285565072855757E0725477
chr177285583772857502E0725664
chr177286815372870509E07217980
chr177288925772889317E07239084
chr177288939272889442E07239219
chr177288948572889990E07239312
chr177285565072855757E0735477
chr177285583772857502E0735664
chr177285750372857569E0737330
chr177286815372870509E07317980
chr177288925772889317E07339084
chr177288939272889442E07339219
chr177288948572889990E07339312
chr177286815372870509E07417980
chr177284844672849301E082-872
chr177285565072855757E0825477
chr177285583772857502E0825664
chr177285750372857569E0827330
chr177286815372870509E08217980
chr177288948572889990E08239312