rs690578

Homo sapiens
A>G
GRIN2C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0203 (6081/29928,GnomAD)
A=0175 (5121/29118,TOPMED)
A=0219 (1097/5008,1000G)
A=0267 (1030/3854,ALSPAC)
A=0250 (927/3708,TWINSUK)
chr17:74857308 (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.74857308A>G
GRCh37.p13 chr 17NC_000017.10:g.72853450G>A

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
1000GenomesAfricanSub1322G=0.938A==0.062
1000GenomesAmericanSub694G=0.830A==0.170
1000GenomesEast AsianSub1008G=0.624A==0.376
1000GenomesEuropeSub1006G=0.734A==0.266
1000GenomesGlobalStudy-wide5008G=0.781A==0.219
1000GenomesSouth AsianSub978G=0.750A==0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.733A==0.267
The Genome Aggregation DatabaseAfricanSub8720G=0.910A==0.090
The Genome Aggregation DatabaseAmericanSub838G=0.840A==0.160
The Genome Aggregation DatabaseEast AsianSub1612G=0.574A==0.426
The Genome Aggregation DatabaseEuropeSub18456G=0.763A==0.236
The Genome Aggregation DatabaseGlobalStudy-wide29928G=0.796A==0.203
The Genome Aggregation DatabaseOtherSub302G=0.640A==0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.824A==0.175
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.750A==0.250
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
rs6905780.00065alcohol dependence20201924

eQTL of rs690578 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:72853450FDXRENSG00000161513.7G>A1.8977e-7-15706Cortex

meQTL of rs690578 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 )
chr177280353972803873E067-49577
chr177280417772804390E067-49060
chr177280444972804727E067-48723
chr177280497472805029E067-48421
chr177280624572806407E067-47043
chr177280660572806672E067-46778
chr177280671572806853E067-46597
chr177280687072807137E067-46313
chr177280716972807499E067-45951
chr177280825172808713E067-44737
chr177280878572809249E067-44201
chr177280928272809459E067-43991
chr177280946572809552E067-43898
chr177280993772810085E067-43365
chr177281152572811636E067-41814
chr177281170072811980E067-41470
chr177281201572812109E067-41341
chr177281216972812442E067-41008
chr177281693372817003E067-36447
chr177281717772817263E067-36187
chr177281738372817433E067-36017
chr177281743472817488E067-35962
chr177281750172817572E067-35878
chr177281765472817726E067-35724
chr177281782872817878E067-35572
chr177281796572818100E067-35350
chr177281828572818355E067-35095
chr177281836372818437E067-35013
chr177281851472818747E067-34703
chr177281877772818834E067-34616
chr177281973572819794E067-33656
chr177281986072819920E067-33530
chr177282005372820103E067-33347
chr177282013472820174E067-33276
chr177282022672820451E067-32999
chr177282051772820826E067-32624
chr177282085272821007E067-32443
chr177282108272821287E067-32163
chr177282136772821452E067-31998
chr177282159272821642E067-31808
chr177282166772821861E067-31589
chr177282190572821965E067-31485
chr177282214172822416E067-31034
chr177283704572837739E067-15711
chr177283774072838106E067-15344
chr177283816472839396E067-14054
chr177285208672852196E067-1254
chr177285221872852383E067-1067
chr177286789372868134E06714443
chr177280353972803873E068-49577
chr177280417772804390E068-49060
chr177280444972804727E068-48723
chr177280497472805029E068-48421
chr177280503372805191E068-48259
chr177280527072805427E068-48023
chr177280624572806407E068-47043
chr177280660572806672E068-46778
chr177280671572806853E068-46597
chr177280687072807137E068-46313
chr177280716972807499E068-45951
chr177280928272809459E068-43991
chr177280946572809552E068-43898
chr177280993772810085E068-43365
chr177281693372817003E068-36447
chr177281717772817263E068-36187
chr177281738372817433E068-36017
chr177281743472817488E068-35962
chr177281750172817572E068-35878
chr177281765472817726E068-35724
chr177281782872817878E068-35572
chr177281796572818100E068-35350
chr177281828572818355E068-35095
chr177281836372818437E068-35013
chr177281851472818747E068-34703
chr177281877772818834E068-34616
chr177281884072819046E068-34404
chr177281907472819673E068-33777
chr177281973572819794E068-33656
chr177281986072819920E068-33530
chr177282005372820103E068-33347
chr177282013472820174E068-33276
chr177282022672820451E068-32999
chr177282051772820826E068-32624
chr177282085272821007E068-32443
chr177282108272821287E068-32163
chr177282136772821452E068-31998
chr177282159272821642E068-31808
chr177282166772821861E068-31589
chr177282190572821965E068-31485
chr177282214172822416E068-31034
chr177282259172822787E068-30663
chr177282315872823224E068-30226
chr177282335672823436E068-30014
chr177282832472828404E068-25046
chr177282865472828803E068-24647
chr177282883072828914E068-24536
chr177282904072829099E068-24351
chr177282930072829350E068-24100
chr177282956972829981E068-23469
chr177283608372837037E068-16413
chr177283704572837739E068-15711
chr177283774072838106E068-15344
chr177283816472839396E068-14054
chr177280353972803873E069-49577
chr177280417772804390E069-49060
chr177280444972804727E069-48723
chr177280497472805029E069-48421
chr177280503372805191E069-48259
chr177280624572806407E069-47043
chr177280660572806672E069-46778
chr177280671572806853E069-46597
chr177280687072807137E069-46313
chr177280716972807499E069-45951
chr177280825172808713E069-44737
chr177280878572809249E069-44201
chr177280928272809459E069-43991
chr177280946572809552E069-43898
chr177280993772810085E069-43365
chr177281128972811411E069-42039
chr177281152572811636E069-41814
chr177281170072811980E069-41470
chr177281201572812109E069-41341
chr177281216972812442E069-41008
chr177281693372817003E069-36447
chr177281717772817263E069-36187
chr177281738372817433E069-36017
chr177281743472817488E069-35962
chr177281750172817572E069-35878
chr177281765472817726E069-35724
chr177281782872817878E069-35572
chr177281796572818100E069-35350
chr177281828572818355E069-35095
chr177281836372818437E069-35013
chr177281851472818747E069-34703
chr177281877772818834E069-34616
chr177281884072819046E069-34404
chr177281907472819673E069-33777
chr177281973572819794E069-33656
chr177281986072819920E069-33530
chr177282005372820103E069-33347
chr177282013472820174E069-33276
chr177282022672820451E069-32999
chr177282051772820826E069-32624
chr177282085272821007E069-32443
chr177282108272821287E069-32163
chr177282136772821452E069-31998
chr177282159272821642E069-31808
chr177282166772821861E069-31589
chr177282190572821965E069-31485
chr177282214172822416E069-31034
chr177283608372837037E069-16413
chr177283704572837739E069-15711
chr177283774072838106E069-15344
chr177283816472839396E069-14054
chr177285221872852383E069-1067
chr177285296872853008E069-442
chr177286064272861866E0697192
chr177286724972867874E06913799
chr177286789372868134E06914443
chr177280353972803873E070-49577
chr177280444972804727E070-48723
chr177281796572818100E070-35350
chr177281828572818355E070-35095
chr177281836372818437E070-35013
chr177281851472818747E070-34703
chr177281877772818834E070-34616
chr177281884072819046E070-34404
chr177281907472819673E070-33777
chr177281973572819794E070-33656
chr177281986072819920E070-33530
chr177282005372820103E070-33347
chr177282013472820174E070-33276
chr177282022672820451E070-32999
chr177282051772820826E070-32624
chr177282085272821007E070-32443
chr177282108272821287E070-32163
chr177282136772821452E070-31998
chr177282159272821642E070-31808
chr177282166772821861E070-31589
chr177282190572821965E070-31485
chr177282214172822416E070-31034
chr177283562372835690E070-17760
chr177283608372837037E070-16413
chr177283704572837739E070-15711
chr177283774072838106E070-15344
chr177283816472839396E070-14054
chr177285208672852196E070-1254
chr177286789372868134E07014443
chr177280353972803873E071-49577
chr177280417772804390E071-49060
chr177280444972804727E071-48723
chr177280497472805029E071-48421
chr177280503372805191E071-48259
chr177280527072805427E071-48023
chr177280598372806023E071-47427
chr177280624572806407E071-47043
chr177280660572806672E071-46778
chr177280671572806853E071-46597
chr177280687072807137E071-46313
chr177280716972807499E071-45951
chr177280825172808713E071-44737
chr177280878572809249E071-44201
chr177280928272809459E071-43991
chr177280946572809552E071-43898
chr177280993772810085E071-43365
chr177281072172810828E071-42622
chr177281170072811980E071-41470
chr177281201572812109E071-41341
chr177281216972812442E071-41008
chr177281660172816701E071-36749
chr177281693372817003E071-36447
chr177281717772817263E071-36187
chr177281738372817433E071-36017
chr177281743472817488E071-35962
chr177281750172817572E071-35878
chr177281765472817726E071-35724
chr177281782872817878E071-35572
chr177281796572818100E071-35350
chr177281828572818355E071-35095
chr177281836372818437E071-35013
chr177281851472818747E071-34703
chr177281877772818834E071-34616
chr177281884072819046E071-34404
chr177281907472819673E071-33777
chr177281986072819920E071-33530
chr177282005372820103E071-33347
chr177282013472820174E071-33276
chr177282022672820451E071-32999
chr177282051772820826E071-32624
chr177282085272821007E071-32443
chr177282108272821287E071-32163
chr177282136772821452E071-31998
chr177282159272821642E071-31808
chr177282166772821861E071-31589
chr177282190572821965E071-31485
chr177282214172822416E071-31034
chr177282259172822787E071-30663
chr177282315872823224E071-30226
chr177283008372830717E071-22733
chr177283074872830947E071-22503
chr177283336272833438E071-20012
chr177283346172833544E071-19906
chr177283363472833689E071-19761
chr177283372572833781E071-19669
chr177283388272833976E071-19474
chr177283608372837037E071-16413
chr177283704572837739E071-15711
chr177283774072838106E071-15344
chr177285208672852196E071-1254
chr177285221872852383E071-1067
chr177286724972867874E07113799
chr177286789372868134E07114443
chr177287902072879356E07125570
chr177288471472884928E07131264
chr177288497072885029E07131520
chr177280353972803873E072-49577
chr177280417772804390E072-49060
chr177280444972804727E072-48723
chr177280497472805029E072-48421
chr177280503372805191E072-48259
chr177280527072805427E072-48023
chr177280598372806023E072-47427
chr177280624572806407E072-47043
chr177280660572806672E072-46778
chr177280671572806853E072-46597
chr177280687072807137E072-46313
chr177280716972807499E072-45951
chr177280825172808713E072-44737
chr177280878572809249E072-44201
chr177280928272809459E072-43991
chr177280946572809552E072-43898
chr177280993772810085E072-43365
chr177281072172810828E072-42622
chr177281201572812109E072-41341
chr177281216972812442E072-41008
chr177281245572812546E072-40904
chr177281738372817433E072-36017
chr177281743472817488E072-35962
chr177281750172817572E072-35878
chr177281765472817726E072-35724
chr177281828572818355E072-35095
chr177281836372818437E072-35013
chr177281851472818747E072-34703
chr177281877772818834E072-34616
chr177281884072819046E072-34404
chr177281907472819673E072-33777
chr177281973572819794E072-33656
chr177281986072819920E072-33530
chr177282005372820103E072-33347
chr177282013472820174E072-33276
chr177282022672820451E072-32999
chr177282051772820826E072-32624
chr177282085272821007E072-32443
chr177282108272821287E072-32163
chr177282136772821452E072-31998
chr177282159272821642E072-31808
chr177282166772821861E072-31589
chr177282190572821965E072-31485
chr177282214172822416E072-31034
chr177282259172822787E072-30663
chr177282315872823224E072-30226
chr177282335672823436E072-30014
chr177283008372830717E072-22733
chr177283074872830947E072-22503
chr177283704572837739E072-15711
chr177283774072838106E072-15344
chr177283816472839396E072-14054
chr177285208672852196E072-1254
chr177285221872852383E072-1067
chr177286789372868134E07214443
chr177280417772804390E073-49060
chr177280444972804727E073-48723
chr177280624572806407E073-47043
chr177280660572806672E073-46778
chr177280671572806853E073-46597
chr177280687072807137E073-46313
chr177280716972807499E073-45951
chr177280825172808713E073-44737
chr177280878572809249E073-44201
chr177280928272809459E073-43991
chr177281201572812109E073-41341
chr177281216972812442E073-41008
chr177281717772817263E073-36187
chr177281738372817433E073-36017
chr177281743472817488E073-35962
chr177281750172817572E073-35878
chr177281765472817726E073-35724
chr177281782872817878E073-35572
chr177281796572818100E073-35350
chr177281828572818355E073-35095
chr177281836372818437E073-35013
chr177281907472819673E073-33777
chr177281973572819794E073-33656
chr177281986072819920E073-33530
chr177282005372820103E073-33347
chr177282013472820174E073-33276
chr177282022672820451E073-32999
chr177282051772820826E073-32624
chr177282085272821007E073-32443
chr177282108272821287E073-32163
chr177282136772821452E073-31998
chr177282159272821642E073-31808
chr177282166772821861E073-31589
chr177282190572821965E073-31485
chr177282214172822416E073-31034
chr177282259172822787E073-30663
chr177282315872823224E073-30226
chr177283074872830947E073-22503
chr177283103472831150E073-22300
chr177283363472833689E073-19761
chr177283372572833781E073-19669
chr177283388272833976E073-19474
chr177283418572834235E073-19215
chr177283704572837739E073-15711
chr177283774072838106E073-15344
chr177283816472839396E073-14054
chr177286724972867874E07313799
chr177280353972803873E074-49577
chr177280417772804390E074-49060
chr177280444972804727E074-48723
chr177280497472805029E074-48421
chr177280624572806407E074-47043
chr177280660572806672E074-46778
chr177280671572806853E074-46597
chr177280687072807137E074-46313
chr177280716972807499E074-45951
chr177280825172808713E074-44737
chr177280878572809249E074-44201
chr177280928272809459E074-43991
chr177280946572809552E074-43898
chr177280993772810085E074-43365
chr177281072172810828E074-42622
chr177281087372810977E074-42473
chr177281099372811081E074-42369
chr177281113772811213E074-42237
chr177281128972811411E074-42039
chr177281693372817003E074-36447
chr177281717772817263E074-36187
chr177281738372817433E074-36017
chr177281743472817488E074-35962
chr177281750172817572E074-35878
chr177281765472817726E074-35724
chr177281782872817878E074-35572
chr177281796572818100E074-35350
chr177281828572818355E074-35095
chr177281836372818437E074-35013
chr177281851472818747E074-34703
chr177281877772818834E074-34616
chr177281884072819046E074-34404
chr177281907472819673E074-33777
chr177281973572819794E074-33656
chr177281986072819920E074-33530
chr177282005372820103E074-33347
chr177282013472820174E074-33276
chr177282022672820451E074-32999
chr177282051772820826E074-32624
chr177282085272821007E074-32443
chr177282108272821287E074-32163
chr177282136772821452E074-31998
chr177282159272821642E074-31808
chr177282166772821861E074-31589
chr177282190572821965E074-31485
chr177282214172822416E074-31034
chr177282956972829981E074-23469
chr177283008372830717E074-22733
chr177283608372837037E074-16413
chr177283704572837739E074-15711
chr177283774072838106E074-15344
chr177283816472839396E074-14054
chr177286789372868134E07414443
chr177280353972803873E081-49577
chr177280417772804390E081-49060
chr177280444972804727E081-48723
chr177280497472805029E081-48421
chr177280503372805191E081-48259
chr177280825172808713E081-44737
chr177280878572809249E081-44201
chr177280928272809459E081-43991
chr177280946572809552E081-43898
chr177280993772810085E081-43365
chr177281738372817433E081-36017
chr177281743472817488E081-35962
chr177281750172817572E081-35878
chr177281765472817726E081-35724
chr177281782872817878E081-35572
chr177281796572818100E081-35350
chr177281828572818355E081-35095
chr177281836372818437E081-35013
chr177281851472818747E081-34703
chr177281877772818834E081-34616
chr177281884072819046E081-34404
chr177281907472819673E081-33777
chr177281973572819794E081-33656
chr177281986072819920E081-33530
chr177282005372820103E081-33347
chr177282013472820174E081-33276
chr177282022672820451E081-32999
chr177282051772820826E081-32624
chr177282085272821007E081-32443
chr177282108272821287E081-32163
chr177282136772821452E081-31998
chr177282159272821642E081-31808
chr177282166772821861E081-31589
chr177282190572821965E081-31485
chr177282214172822416E081-31034
chr177282259172822787E081-30663
chr177282315872823224E081-30226
chr177283608372837037E081-16413
chr177283704572837739E081-15711
chr177283774072838106E081-15344
chr177283816472839396E081-14054
chr177285208672852196E081-1254
chr177285221872852383E081-1067
chr177285246772852588E081-862
chr177285296872853008E081-442
chr177285335372853519E0810
chr177285357072853714E081120
chr177285386772853935E081417
chr177286789372868134E08114443
chr177287153072872515E08118080
chr177287253872872645E08119088
chr177280353972803873E082-49577
chr177280417772804390E082-49060
chr177280444972804727E082-48723
chr177280497472805029E082-48421
chr177280825172808713E082-44737
chr177280878572809249E082-44201
chr177280928272809459E082-43991
chr177280946572809552E082-43898
chr177280993772810085E082-43365
chr177281782872817878E082-35572
chr177281796572818100E082-35350
chr177281828572818355E082-35095
chr177281836372818437E082-35013
chr177282005372820103E082-33347
chr177282013472820174E082-33276
chr177282022672820451E082-32999
chr177282051772820826E082-32624
chr177282085272821007E082-32443
chr177282108272821287E082-32163
chr177282136772821452E082-31998
chr177282159272821642E082-31808
chr177282166772821861E082-31589
chr177282190572821965E082-31485
chr177282214172822416E082-31034
chr177282259172822787E082-30663
chr177283704572837739E082-15711
chr177283774072838106E082-15344
chr177283816472839396E082-14054
chr177285208672852196E082-1254
chr177285221872852383E082-1067
chr177285246772852588E082-862
chr177285296872853008E082-442
chr177285335372853519E0820
chr177285357072853714E082120
chr177287135472871420E08217904
chr177287153072872515E08218080
chr177287253872872645E08219088










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177286815372870509E06714703
chr177288925772889317E06735807
chr177288939272889442E06735942
chr177288948572889990E06736035
chr177285565072855757E0682200
chr177285750372857569E0684053
chr177286815372870509E06814703
chr177288925772889317E06835807
chr177288939272889442E06835942
chr177288948572889990E06836035
chr177285565072855757E0692200
chr177285583772857502E0692387
chr177286815372870509E06914703
chr177288925772889317E06935807
chr177288939272889442E06935942
chr177288948572889990E06936035
chr177284844672849301E070-4149
chr177286815372870509E07014703
chr177288948572889990E07036035
chr177285565072855757E0712200
chr177286815372870509E07114703
chr177288925772889317E07135807
chr177285565072855757E0722200
chr177285583772857502E0722387
chr177286815372870509E07214703
chr177288925772889317E07235807
chr177288939272889442E07235942
chr177288948572889990E07236035
chr177285565072855757E0732200
chr177285583772857502E0732387
chr177285750372857569E0734053
chr177286815372870509E07314703
chr177288925772889317E07335807
chr177288939272889442E07335942
chr177288948572889990E07336035
chr177286815372870509E07414703
chr177284844672849301E082-4149
chr177285565072855757E0822200
chr177285583772857502E0822387
chr177285750372857569E0824053
chr177286815372870509E08214703
chr177288948572889990E08236035