rs9901283

Homo sapiens
G>A
GRIN2C : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0417 (12492/29912,GnomAD)
G==0442 (12889/29118,TOPMED)
A=0486 (2435/5008,1000G)
G==0375 (1444/3854,ALSPAC)
G==0359 (1332/3708,TWINSUK)
chr17:74841693 (GRCh38.p7) (17q25.1)
AD
GWASdb2
3   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.74841693G>A
GRCh37.p13 chr 17NC_000017.10:g.72837832G>A

Gene: GRIN2C, glutamate ionotropic receptor NMDA type subunit 2C(minus strand): 500B Downstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.529A=0.471
1000GenomesAmericanSub694G=0.410A=0.590
1000GenomesEast AsianSub1008G=0.662A=0.338
1000GenomesEuropeSub1006G=0.399A=0.601
1000GenomesGlobalStudy-wide5008G=0.514A=0.486
1000GenomesSouth AsianSub978G=0.530A=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.375A=0.625
The Genome Aggregation DatabaseAfricanSub8716G=0.519A=0.481
The Genome Aggregation DatabaseAmericanSub838G=0.410A=0.590
The Genome Aggregation DatabaseEast AsianSub1614G=0.683A=0.317
The Genome Aggregation DatabaseEuropeSub18442G=0.345A=0.654
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.417A=0.582
The Genome Aggregation DatabaseOtherSub302G=0.530A=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.442A=0.557
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.359A=0.641
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs99012830.00000931alcohol dependence23691058
rs99012830.0000943alcohol dependence21703634
rs99012830.00079alcohol dependence20201924

eQTL of rs9901283 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 rs9901283 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 )
chr177280335672803406E067-34426
chr177280353972803873E067-33959
chr177280417772804390E067-33442
chr177280444972804727E067-33105
chr177280497472805029E067-32803
chr177280624572806407E067-31425
chr177280660572806672E067-31160
chr177280671572806853E067-30979
chr177280687072807137E067-30695
chr177280716972807499E067-30333
chr177280825172808713E067-29119
chr177280878572809249E067-28583
chr177280928272809459E067-28373
chr177280946572809552E067-28280
chr177280993772810085E067-27747
chr177281152572811636E067-26196
chr177281170072811980E067-25852
chr177281201572812109E067-25723
chr177281216972812442E067-25390
chr177281693372817003E067-20829
chr177281717772817263E067-20569
chr177281738372817433E067-20399
chr177281743472817488E067-20344
chr177281750172817572E067-20260
chr177281765472817726E067-20106
chr177281782872817878E067-19954
chr177281796572818100E067-19732
chr177281828572818355E067-19477
chr177281836372818437E067-19395
chr177281851472818747E067-19085
chr177281877772818834E067-18998
chr177281973572819794E067-18038
chr177281986072819920E067-17912
chr177282005372820103E067-17729
chr177282013472820174E067-17658
chr177282022672820451E067-17381
chr177282051772820826E067-17006
chr177282085272821007E067-16825
chr177282108272821287E067-16545
chr177282136772821452E067-16380
chr177282159272821642E067-16190
chr177282166772821861E067-15971
chr177282190572821965E067-15867
chr177282214172822416E067-15416
chr177283704572837739E067-93
chr177283774072838106E0670
chr177283816472839396E067332
chr177285208672852196E06714254
chr177285221872852383E06714386
chr177286789372868134E06730061
chr177279120372791302E068-46530
chr177280305872803108E068-34724
chr177280335672803406E068-34426
chr177280353972803873E068-33959
chr177280417772804390E068-33442
chr177280444972804727E068-33105
chr177280497472805029E068-32803
chr177280503372805191E068-32641
chr177280527072805427E068-32405
chr177280624572806407E068-31425
chr177280660572806672E068-31160
chr177280671572806853E068-30979
chr177280687072807137E068-30695
chr177280716972807499E068-30333
chr177280928272809459E068-28373
chr177280946572809552E068-28280
chr177280993772810085E068-27747
chr177281693372817003E068-20829
chr177281717772817263E068-20569
chr177281738372817433E068-20399
chr177281743472817488E068-20344
chr177281750172817572E068-20260
chr177281765472817726E068-20106
chr177281782872817878E068-19954
chr177281796572818100E068-19732
chr177281828572818355E068-19477
chr177281836372818437E068-19395
chr177281851472818747E068-19085
chr177281877772818834E068-18998
chr177281884072819046E068-18786
chr177281907472819673E068-18159
chr177281973572819794E068-18038
chr177281986072819920E068-17912
chr177282005372820103E068-17729
chr177282013472820174E068-17658
chr177282022672820451E068-17381
chr177282051772820826E068-17006
chr177282085272821007E068-16825
chr177282108272821287E068-16545
chr177282136772821452E068-16380
chr177282159272821642E068-16190
chr177282166772821861E068-15971
chr177282190572821965E068-15867
chr177282214172822416E068-15416
chr177282259172822787E068-15045
chr177282315872823224E068-14608
chr177282335672823436E068-14396
chr177282832472828404E068-9428
chr177282865472828803E068-9029
chr177282883072828914E068-8918
chr177282904072829099E068-8733
chr177282930072829350E068-8482
chr177282956972829981E068-7851
chr177283608372837037E068-795
chr177283704572837739E068-93
chr177283774072838106E0680
chr177283816472839396E068332
chr177279120372791302E069-46530
chr177279195672792016E069-45816
chr177279621172796261E069-41571
chr177279629872796352E069-41480
chr177280353972803873E069-33959
chr177280417772804390E069-33442
chr177280444972804727E069-33105
chr177280497472805029E069-32803
chr177280503372805191E069-32641
chr177280624572806407E069-31425
chr177280660572806672E069-31160
chr177280671572806853E069-30979
chr177280687072807137E069-30695
chr177280716972807499E069-30333
chr177280825172808713E069-29119
chr177280878572809249E069-28583
chr177280928272809459E069-28373
chr177280946572809552E069-28280
chr177280993772810085E069-27747
chr177281128972811411E069-26421
chr177281152572811636E069-26196
chr177281170072811980E069-25852
chr177281201572812109E069-25723
chr177281216972812442E069-25390
chr177281693372817003E069-20829
chr177281717772817263E069-20569
chr177281738372817433E069-20399
chr177281743472817488E069-20344
chr177281750172817572E069-20260
chr177281765472817726E069-20106
chr177281782872817878E069-19954
chr177281796572818100E069-19732
chr177281828572818355E069-19477
chr177281836372818437E069-19395
chr177281851472818747E069-19085
chr177281877772818834E069-18998
chr177281884072819046E069-18786
chr177281907472819673E069-18159
chr177281973572819794E069-18038
chr177281986072819920E069-17912
chr177282005372820103E069-17729
chr177282013472820174E069-17658
chr177282022672820451E069-17381
chr177282051772820826E069-17006
chr177282085272821007E069-16825
chr177282108272821287E069-16545
chr177282136772821452E069-16380
chr177282159272821642E069-16190
chr177282166772821861E069-15971
chr177282190572821965E069-15867
chr177282214172822416E069-15416
chr177283608372837037E069-795
chr177283704572837739E069-93
chr177283774072838106E0690
chr177283816472839396E069332
chr177285221872852383E06914386
chr177285296872853008E06915136
chr177286064272861866E06922810
chr177286724972867874E06929417
chr177286789372868134E06930061
chr177280166072802121E070-35711
chr177280305872803108E070-34724
chr177280335672803406E070-34426
chr177280353972803873E070-33959
chr177280444972804727E070-33105
chr177281796572818100E070-19732
chr177281828572818355E070-19477
chr177281836372818437E070-19395
chr177281851472818747E070-19085
chr177281877772818834E070-18998
chr177281884072819046E070-18786
chr177281907472819673E070-18159
chr177281973572819794E070-18038
chr177281986072819920E070-17912
chr177282005372820103E070-17729
chr177282013472820174E070-17658
chr177282022672820451E070-17381
chr177282051772820826E070-17006
chr177282085272821007E070-16825
chr177282108272821287E070-16545
chr177282136772821452E070-16380
chr177282159272821642E070-16190
chr177282166772821861E070-15971
chr177282190572821965E070-15867
chr177282214172822416E070-15416
chr177283562372835690E070-2142
chr177283608372837037E070-795
chr177283704572837739E070-93
chr177283774072838106E0700
chr177283816472839396E070332
chr177285208672852196E07014254
chr177286789372868134E07030061
chr177279120372791302E071-46530
chr177279195672792016E071-45816
chr177280335672803406E071-34426
chr177280353972803873E071-33959
chr177280417772804390E071-33442
chr177280444972804727E071-33105
chr177280497472805029E071-32803
chr177280503372805191E071-32641
chr177280527072805427E071-32405
chr177280598372806023E071-31809
chr177280624572806407E071-31425
chr177280660572806672E071-31160
chr177280671572806853E071-30979
chr177280687072807137E071-30695
chr177280716972807499E071-30333
chr177280825172808713E071-29119
chr177280878572809249E071-28583
chr177280928272809459E071-28373
chr177280946572809552E071-28280
chr177280993772810085E071-27747
chr177281072172810828E071-27004
chr177281170072811980E071-25852
chr177281201572812109E071-25723
chr177281216972812442E071-25390
chr177281660172816701E071-21131
chr177281693372817003E071-20829
chr177281717772817263E071-20569
chr177281738372817433E071-20399
chr177281743472817488E071-20344
chr177281750172817572E071-20260
chr177281765472817726E071-20106
chr177281782872817878E071-19954
chr177281796572818100E071-19732
chr177281828572818355E071-19477
chr177281836372818437E071-19395
chr177281851472818747E071-19085
chr177281877772818834E071-18998
chr177281884072819046E071-18786
chr177281907472819673E071-18159
chr177281986072819920E071-17912
chr177282005372820103E071-17729
chr177282013472820174E071-17658
chr177282022672820451E071-17381
chr177282051772820826E071-17006
chr177282085272821007E071-16825
chr177282108272821287E071-16545
chr177282136772821452E071-16380
chr177282159272821642E071-16190
chr177282166772821861E071-15971
chr177282190572821965E071-15867
chr177282214172822416E071-15416
chr177282259172822787E071-15045
chr177282315872823224E071-14608
chr177283008372830717E071-7115
chr177283074872830947E071-6885
chr177283336272833438E071-4394
chr177283346172833544E071-4288
chr177283363472833689E071-4143
chr177283372572833781E071-4051
chr177283388272833976E071-3856
chr177283608372837037E071-795
chr177283704572837739E071-93
chr177283774072838106E0710
chr177285208672852196E07114254
chr177285221872852383E07114386
chr177286724972867874E07129417
chr177286789372868134E07130061
chr177287902072879356E07141188
chr177288471472884928E07146882
chr177288497072885029E07147138
chr177279120372791302E072-46530
chr177279195672792016E072-45816
chr177279612172796161E072-41671
chr177279621172796261E072-41571
chr177279629872796352E072-41480
chr177279951772799706E072-38126
chr177280335672803406E072-34426
chr177280353972803873E072-33959
chr177280417772804390E072-33442
chr177280444972804727E072-33105
chr177280497472805029E072-32803
chr177280503372805191E072-32641
chr177280527072805427E072-32405
chr177280598372806023E072-31809
chr177280624572806407E072-31425
chr177280660572806672E072-31160
chr177280671572806853E072-30979
chr177280687072807137E072-30695
chr177280716972807499E072-30333
chr177280825172808713E072-29119
chr177280878572809249E072-28583
chr177280928272809459E072-28373
chr177280946572809552E072-28280
chr177280993772810085E072-27747
chr177281072172810828E072-27004
chr177281201572812109E072-25723
chr177281216972812442E072-25390
chr177281245572812546E072-25286
chr177281738372817433E072-20399
chr177281743472817488E072-20344
chr177281750172817572E072-20260
chr177281765472817726E072-20106
chr177281828572818355E072-19477
chr177281836372818437E072-19395
chr177281851472818747E072-19085
chr177281877772818834E072-18998
chr177281884072819046E072-18786
chr177281907472819673E072-18159
chr177281973572819794E072-18038
chr177281986072819920E072-17912
chr177282005372820103E072-17729
chr177282013472820174E072-17658
chr177282022672820451E072-17381
chr177282051772820826E072-17006
chr177282085272821007E072-16825
chr177282108272821287E072-16545
chr177282136772821452E072-16380
chr177282159272821642E072-16190
chr177282166772821861E072-15971
chr177282190572821965E072-15867
chr177282214172822416E072-15416
chr177282259172822787E072-15045
chr177282315872823224E072-14608
chr177282335672823436E072-14396
chr177283008372830717E072-7115
chr177283074872830947E072-6885
chr177283704572837739E072-93
chr177283774072838106E0720
chr177283816472839396E072332
chr177285208672852196E07214254
chr177285221872852383E07214386
chr177286789372868134E07230061
chr177279621172796261E073-41571
chr177279629872796352E073-41480
chr177280417772804390E073-33442
chr177280444972804727E073-33105
chr177280624572806407E073-31425
chr177280660572806672E073-31160
chr177280671572806853E073-30979
chr177280687072807137E073-30695
chr177280716972807499E073-30333
chr177280825172808713E073-29119
chr177280878572809249E073-28583
chr177280928272809459E073-28373
chr177281201572812109E073-25723
chr177281216972812442E073-25390
chr177281717772817263E073-20569
chr177281738372817433E073-20399
chr177281743472817488E073-20344
chr177281750172817572E073-20260
chr177281765472817726E073-20106
chr177281782872817878E073-19954
chr177281796572818100E073-19732
chr177281828572818355E073-19477
chr177281836372818437E073-19395
chr177281907472819673E073-18159
chr177281973572819794E073-18038
chr177281986072819920E073-17912
chr177282005372820103E073-17729
chr177282013472820174E073-17658
chr177282022672820451E073-17381
chr177282051772820826E073-17006
chr177282085272821007E073-16825
chr177282108272821287E073-16545
chr177282136772821452E073-16380
chr177282159272821642E073-16190
chr177282166772821861E073-15971
chr177282190572821965E073-15867
chr177282214172822416E073-15416
chr177282259172822787E073-15045
chr177282315872823224E073-14608
chr177283074872830947E073-6885
chr177283103472831150E073-6682
chr177283363472833689E073-4143
chr177283372572833781E073-4051
chr177283388272833976E073-3856
chr177283418572834235E073-3597
chr177283704572837739E073-93
chr177283774072838106E0730
chr177283816472839396E073332
chr177286724972867874E07329417
chr177279120372791302E074-46530
chr177279195672792016E074-45816
chr177280335672803406E074-34426
chr177280353972803873E074-33959
chr177280417772804390E074-33442
chr177280444972804727E074-33105
chr177280497472805029E074-32803
chr177280624572806407E074-31425
chr177280660572806672E074-31160
chr177280671572806853E074-30979
chr177280687072807137E074-30695
chr177280716972807499E074-30333
chr177280825172808713E074-29119
chr177280878572809249E074-28583
chr177280928272809459E074-28373
chr177280946572809552E074-28280
chr177280993772810085E074-27747
chr177281072172810828E074-27004
chr177281087372810977E074-26855
chr177281099372811081E074-26751
chr177281113772811213E074-26619
chr177281128972811411E074-26421
chr177281693372817003E074-20829
chr177281717772817263E074-20569
chr177281738372817433E074-20399
chr177281743472817488E074-20344
chr177281750172817572E074-20260
chr177281765472817726E074-20106
chr177281782872817878E074-19954
chr177281796572818100E074-19732
chr177281828572818355E074-19477
chr177281836372818437E074-19395
chr177281851472818747E074-19085
chr177281877772818834E074-18998
chr177281884072819046E074-18786
chr177281907472819673E074-18159
chr177281973572819794E074-18038
chr177281986072819920E074-17912
chr177282005372820103E074-17729
chr177282013472820174E074-17658
chr177282022672820451E074-17381
chr177282051772820826E074-17006
chr177282085272821007E074-16825
chr177282108272821287E074-16545
chr177282136772821452E074-16380
chr177282159272821642E074-16190
chr177282166772821861E074-15971
chr177282190572821965E074-15867
chr177282214172822416E074-15416
chr177282956972829981E074-7851
chr177283008372830717E074-7115
chr177283608372837037E074-795
chr177283704572837739E074-93
chr177283774072838106E0740
chr177283816472839396E074332
chr177286789372868134E07430061
chr177280010872800473E081-37359
chr177280135772801405E081-36427
chr177280151972801620E081-36212
chr177280166072802121E081-35711
chr177280305872803108E081-34724
chr177280335672803406E081-34426
chr177280353972803873E081-33959
chr177280417772804390E081-33442
chr177280444972804727E081-33105
chr177280497472805029E081-32803
chr177280503372805191E081-32641
chr177280825172808713E081-29119
chr177280878572809249E081-28583
chr177280928272809459E081-28373
chr177280946572809552E081-28280
chr177280993772810085E081-27747
chr177281738372817433E081-20399
chr177281743472817488E081-20344
chr177281750172817572E081-20260
chr177281765472817726E081-20106
chr177281782872817878E081-19954
chr177281796572818100E081-19732
chr177281828572818355E081-19477
chr177281836372818437E081-19395
chr177281851472818747E081-19085
chr177281877772818834E081-18998
chr177281884072819046E081-18786
chr177281907472819673E081-18159
chr177281973572819794E081-18038
chr177281986072819920E081-17912
chr177282005372820103E081-17729
chr177282013472820174E081-17658
chr177282022672820451E081-17381
chr177282051772820826E081-17006
chr177282085272821007E081-16825
chr177282108272821287E081-16545
chr177282136772821452E081-16380
chr177282159272821642E081-16190
chr177282166772821861E081-15971
chr177282190572821965E081-15867
chr177282214172822416E081-15416
chr177282259172822787E081-15045
chr177282315872823224E081-14608
chr177283608372837037E081-795
chr177283704572837739E081-93
chr177283774072838106E0810
chr177283816472839396E081332
chr177285208672852196E08114254
chr177285221872852383E08114386
chr177285246772852588E08114635
chr177285296872853008E08115136
chr177285335372853519E08115521
chr177285357072853714E08115738
chr177285386772853935E08116035
chr177286789372868134E08130061
chr177287153072872515E08133698
chr177287253872872645E08134706
chr177280305872803108E082-34724
chr177280335672803406E082-34426
chr177280353972803873E082-33959
chr177280417772804390E082-33442
chr177280444972804727E082-33105
chr177280497472805029E082-32803
chr177280825172808713E082-29119
chr177280878572809249E082-28583
chr177280928272809459E082-28373
chr177280946572809552E082-28280
chr177280993772810085E082-27747
chr177281782872817878E082-19954
chr177281796572818100E082-19732
chr177281828572818355E082-19477
chr177281836372818437E082-19395
chr177282005372820103E082-17729
chr177282013472820174E082-17658
chr177282022672820451E082-17381
chr177282051772820826E082-17006
chr177282085272821007E082-16825
chr177282108272821287E082-16545
chr177282136772821452E082-16380
chr177282159272821642E082-16190
chr177282166772821861E082-15971
chr177282190572821965E082-15867
chr177282214172822416E082-15416
chr177282259172822787E082-15045
chr177283704572837739E082-93
chr177283774072838106E0820
chr177283816472839396E082332
chr177285208672852196E08214254
chr177285221872852383E08214386
chr177285246772852588E08214635
chr177285296872853008E08215136
chr177285335372853519E08215521
chr177285357072853714E08215738
chr177287135472871420E08233522
chr177287153072872515E08233698
chr177287253872872645E08234706










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177286815372870509E06730321
chr177285565072855757E06817818
chr177285750372857569E06819671
chr177286815372870509E06830321
chr177285565072855757E06917818
chr177285583772857502E06918005
chr177286815372870509E06930321
chr177284844672849301E07010614
chr177286815372870509E07030321
chr177285565072855757E07117818
chr177286815372870509E07130321
chr177285565072855757E07217818
chr177285583772857502E07218005
chr177286815372870509E07230321
chr177285565072855757E07317818
chr177285583772857502E07318005
chr177285750372857569E07319671
chr177286815372870509E07330321
chr177286815372870509E07430321
chr177284844672849301E08210614
chr177285565072855757E08217818
chr177285583772857502E08218005
chr177285750372857569E08219671
chr177286815372870509E08230321