rs34158545

Homo sapiens
C>G
GTF2IRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0051 (1537/29962,GnomAD)
G=0058 (1692/29118,TOPMED)
G=0056 (278/5008,1000G)
G=0075 (290/3854,ALSPAC)
G=0081 (299/3708,TWINSUK)
chr7:74586566 (GRCh38.p7) (7q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
427 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.74586566C>G
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.2115802C>G
GTF2IRD1 RefSeqGeneNG_027954.1:g.137776C>G
GRCh37.p13 chr 7NC_000007.13:g.74000895C>G

Gene: GTF2IRD1, GTF2I repeat domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GTF2IRD1 transcript variant 3NM_001199207.1:c.N/AIntron Variant
GTF2IRD1 transcript variant 2NM_005685.3:c.N/AIntron Variant
GTF2IRD1 transcript variant 1NM_016328.2:c.N/AIntron Variant
GTF2IRD1 transcript variant X2XM_006716182.3:c.N/AIntron Variant
GTF2IRD1 transcript variant X3XM_006716183.3:c.N/AIntron Variant
GTF2IRD1 transcript variant X7XM_011516713.1:c.N/AIntron Variant
GTF2IRD1 transcript variant X1XM_017012802.1:c.N/AIntron Variant
GTF2IRD1 transcript variant X4XM_017012803.1:c.N/AIntron Variant
GTF2IRD1 transcript variant X5XM_017012804.1:c.N/AIntron Variant
GTF2IRD1 transcript variant X6XM_017012805.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986G=0.014
1000GenomesAmericanSub694C=0.860G=0.140
1000GenomesEast AsianSub1008C=0.975G=0.025
1000GenomesEuropeSub1006C=0.931G=0.069
1000GenomesGlobalStudy-wide5008C=0.944G=0.056
1000GenomesSouth AsianSub978C=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.925G=0.075
The Genome Aggregation DatabaseAfricanSub8728C=0.973G=0.027
The Genome Aggregation DatabaseAmericanSub838C=0.860G=0.140
The Genome Aggregation DatabaseEast AsianSub1620C=0.972G=0.028
The Genome Aggregation DatabaseEuropeSub18474C=0.940G=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.948G=0.051
The Genome Aggregation DatabaseOtherSub302C=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.941G=0.058
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.919G=0.081
PMID Title Author Journal
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
rs341585454.87E-05alcohol consumption23743675

eQTL of rs34158545 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 rs34158545 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 )
chr720715032071576E067-44226
chr720716252071875E067-43927
chr721086522108735E067-7067
chr721087732108976E067-6826
chr721089872109539E067-6263
chr721095572109706E067-6096
chr721256232125761E0679821
chr721257912125841E0679989
chr721259082126034E06710106
chr721260992126153E06710297
chr721434292143574E06727627
chr721435782145463E06727776
chr721454692147430E06729667
chr721474802147745E06731678
chr721477712151146E06731969
chr721511512151334E06735349
chr721513742151589E06735572
chr721516142151776E06735812
chr721518752152300E06736073
chr721523732152690E06736571
chr721552042155272E06739402
chr721552752155371E06739473
chr721554122156172E06739610
chr721562322156343E06740430
chr721564012156530E06740599
chr721565852157204E06740783
chr721610112161100E06745209
chr721611392161193E06745337
chr721612102161338E06745408
chr721613622161502E06745560
chr721089872109539E068-6263
chr721095572109706E068-6096
chr721256232125761E0689821
chr721257912125841E0689989
chr721259082126034E06810106
chr721434292143574E06827627
chr721435782145463E06827776
chr721454692147430E06829667
chr721474802147745E06831678
chr721477712151146E06831969
chr721511512151334E06835349
chr721513742151589E06835572
chr721516142151776E06835812
chr721554122156172E06839610
chr721562322156343E06840430
chr721564012156530E06840599
chr721565852157204E06840783
chr720706242071398E069-44404
chr720715032071576E069-44226
chr720716252071875E069-43927
chr720719682072014E069-43788
chr720721072072521E069-43281
chr720762422076364E069-39438
chr720917182092297E069-23505
chr721086522108735E069-7067
chr721087732108976E069-6826
chr721089872109539E069-6263
chr721095572109706E069-6096
chr721216792122330E0695877
chr721256232125761E0699821
chr721257912125841E0699989
chr721259082126034E06910106
chr721260992126153E06910297
chr721266572126812E06910855
chr721268732126927E06911071
chr721273172127423E06911515
chr721275032127704E06911701
chr721366452137032E06920843
chr721370722137166E06921270
chr721371832137400E06921381
chr721374372137944E06921635
chr721429962143166E06927194
chr721432352143398E06927433
chr721434292143574E06927627
chr721435782145463E06927776
chr721454692147430E06929667
chr721474802147745E06931678
chr721477712151146E06931969
chr721511512151334E06935349
chr721513742151589E06935572
chr721516142151776E06935812
chr721518752152300E06936073
chr721549002154940E06939098
chr721552042155272E06939402
chr721552752155371E06939473
chr721554122156172E06939610
chr721562322156343E06940430
chr721564012156530E06940599
chr721565852157204E06940783
chr721574252157498E06941623
chr721575432157620E06941741
chr720706242071398E070-44404
chr720715032071576E070-44226
chr720716252071875E070-43927
chr720719682072014E070-43788
chr720721072072521E070-43281
chr720726662072795E070-43007
chr720865872086637E070-29165
chr720867592087165E070-28637
chr721055582105715E070-10087
chr721062222106555E070-9247
chr721085082108560E070-7242
chr721086522108735E070-7067
chr721087732108976E070-6826
chr721089872109539E070-6263
chr721095572109706E070-6096
chr721098402110011E070-5791
chr721101452110276E070-5526
chr721184262118476E0702624
chr721191272119204E0703325
chr721192712119744E0703469
chr721198042119900E0704002
chr721199392120104E0704137
chr721202382120352E0704436
chr721204482120502E0704646
chr721207492120808E0704947
chr721210012121111E0705199
chr721213382121444E0705536
chr721214822121546E0705680
chr721216012121658E0705799
chr721216792122330E0705877
chr721223402122475E0706538
chr721225192122615E0706717
chr721227182122758E0706916
chr721228672122946E0707065
chr721230302123154E0707228
chr721366452137032E07020843
chr721370722137166E07021270
chr721371832137400E07021381
chr721374372137944E07021635
chr721379452138507E07022143
chr721385282138578E07022726
chr721386662138711E07022864
chr721387212138873E07022919
chr721388902140873E07023088
chr721408762140930E07025074
chr721411972141285E07025395
chr721426242142674E07026822
chr721426902142822E07026888
chr721428932142943E07027091
chr721429962143166E07027194
chr721432352143398E07027433
chr721434292143574E07027627
chr721435782145463E07027776
chr721454692147430E07029667
chr721477712151146E07031969
chr721511512151334E07035349
chr721513742151589E07035572
chr721516142151776E07035812
chr721518752152300E07036073
chr721523732152690E07036571
chr721536852154093E07037883
chr721542012154424E07038399
chr721545132154719E07038711
chr721549002154940E07039098
chr721552042155272E07039402
chr721552752155371E07039473
chr721554122156172E07039610
chr721562322156343E07040430
chr721564012156530E07040599
chr721565852157204E07040783
chr721596302160255E07043828
chr721602972160356E07044495
chr721603842160485E07044582
chr721606052160939E07044803
chr721610112161100E07045209
chr721611392161193E07045337
chr721612102161338E07045408
chr721613622161502E07045560
chr721635342163619E07047732
chr721637672163818E07047965
chr721638832164000E07048081
chr720706242071398E071-44404
chr720715032071576E071-44226
chr720716252071875E071-43927
chr720719682072014E071-43788
chr720915052091641E071-24161
chr720917182092297E071-23505
chr720923692092732E071-23070
chr721087732108976E071-6826
chr721089872109539E071-6263
chr721095572109706E071-6096
chr721256232125761E0719821
chr721257912125841E0719989
chr721259082126034E07110106
chr721260992126153E07110297
chr721266572126812E07110855
chr721268732126927E07111071
chr721273172127423E07111515
chr721275032127704E07111701
chr721277462127898E07111944
chr721411972141285E07125395
chr721432352143398E07127433
chr721434292143574E07127627
chr721435782145463E07127776
chr721454692147430E07129667
chr721474802147745E07131678
chr721477712151146E07131969
chr721511512151334E07135349
chr721513742151589E07135572
chr721516142151776E07135812
chr721518752152300E07136073
chr721554122156172E07139610
chr721562322156343E07140430
chr721564012156530E07140599
chr721565852157204E07140783
chr721602972160356E07144495
chr721603842160485E07144582
chr721606052160939E07144803
chr720715032071576E072-44226
chr720716252071875E072-43927
chr720719682072014E072-43788
chr720915052091641E072-24161
chr720917182092297E072-23505
chr721030612103171E072-12631
chr721085082108560E072-7242
chr721086522108735E072-7067
chr721087732108976E072-6826
chr721089872109539E072-6263
chr721095572109706E072-6096
chr721257912125841E0729989
chr721259082126034E07210106
chr721260992126153E07210297
chr721388902140873E07223088
chr721408762140930E07225074
chr721411972141285E07225395
chr721413652142226E07225563
chr721422572142368E07226455
chr721425072142587E07226705
chr721426242142674E07226822
chr721426902142822E07226888
chr721428932142943E07227091
chr721429962143166E07227194
chr721432352143398E07227433
chr721434292143574E07227627
chr721435782145463E07227776
chr721454692147430E07229667
chr721474802147745E07231678
chr721477712151146E07231969
chr721511512151334E07235349
chr721513742151589E07235572
chr721516142151776E07235812
chr721518752152300E07236073
chr721552042155272E07239402
chr721552752155371E07239473
chr721554122156172E07239610
chr721562322156343E07240430
chr721564012156530E07240599
chr721565852157204E07240783
chr721606052160939E07244803
chr721610112161100E07245209
chr721611392161193E07245337
chr721612102161338E07245408
chr721613622161502E07245560
chr720715032071576E073-44226
chr720716252071875E073-43927
chr720719682072014E073-43788
chr720726662072795E073-43007
chr721089872109539E073-6263
chr721095572109706E073-6096
chr721253552125422E0739553
chr721256232125761E0739821
chr721257912125841E0739989
chr721259082126034E07310106
chr721260992126153E07310297
chr721266572126812E07310855
chr721432352143398E07327433
chr721434292143574E07327627
chr721435782145463E07327776
chr721454692147430E07329667
chr721474802147745E07331678
chr721477712151146E07331969
chr721511512151334E07335349
chr721513742151589E07335572
chr721516142151776E07335812
chr721518752152300E07336073
chr721552042155272E07339402
chr721552752155371E07339473
chr721554122156172E07339610
chr721562322156343E07340430
chr721564012156530E07340599
chr721565852157204E07340783
chr720706242071398E074-44404
chr720715032071576E074-44226
chr720716252071875E074-43927
chr721020712102296E074-13506
chr721023742102444E074-13358
chr721024612102565E074-13237
chr721026472102720E074-13082
chr721029462103055E074-12747
chr721030612103171E074-12631
chr721032942103908E074-11894
chr721095572109706E074-6096
chr721098402110011E074-5791
chr721101452110276E074-5526
chr721146702114753E074-1049
chr721148162114895E074-907
chr721149582115018E074-784
chr721151432115226E074-576
chr721153002115350E074-452
chr721153732115427E074-375
chr721154532115495E074-307
chr721156012115641E074-161
chr721256232125761E0749821
chr721257912125841E0749989
chr721259082126034E07410106
chr721260992126153E07410297
chr721413652142226E07425563
chr721432352143398E07427433
chr721434292143574E07427627
chr721435782145463E07427776
chr721454692147430E07429667
chr721474802147745E07431678
chr721477712151146E07431969
chr721511512151334E07435349
chr721513742151589E07435572
chr721516142151776E07435812
chr721518752152300E07436073
chr721549002154940E07439098
chr721552042155272E07439402
chr721552752155371E07439473
chr721554122156172E07439610
chr721562322156343E07440430
chr721564012156530E07440599
chr721565852157204E07440783
chr721596302160255E07443828
chr721602972160356E07444495
chr721603842160485E07444582
chr721610112161100E07445209
chr721611392161193E07445337
chr720697332069936E081-45866
chr720701042070215E081-45587
chr720702462070296E081-45506
chr720704312070585E081-45217
chr720706242071398E081-44404
chr720715032071576E081-44226
chr720716252071875E081-43927
chr720719682072014E081-43788
chr720721072072521E081-43281
chr720764302076509E081-39293
chr720765432076625E081-39177
chr720816602082062E081-33740
chr720823322082372E081-33430
chr720824162082583E081-33219
chr720827652082805E081-32997
chr720829432083005E081-32797
chr720830502083187E081-32615
chr720832562083318E081-32484
chr720834732083662E081-32140
chr720836872083795E081-32007
chr720877752087825E081-27977
chr720879452088031E081-27771
chr720880722088219E081-27583
chr720884022088498E081-27304
chr720887022088950E081-26852
chr720890502089110E081-26692
chr720891412089693E081-26109
chr721051942105499E081-10303
chr721055582105715E081-10087
chr721087732108976E081-6826
chr721089872109539E081-6263
chr721095572109706E081-6096
chr721204482120502E0814646
chr721207492120808E0814947
chr721210012121111E0815199
chr721213382121444E0815536
chr721214822121546E0815680
chr721216012121658E0815799
chr721216792122330E0815877
chr721223402122475E0816538
chr721225192122615E0816717
chr721227182122758E0816916
chr721228672122946E0817065
chr721230302123154E0817228
chr721256232125761E0819821
chr721335822133746E08117780
chr721385282138578E08122726
chr721386662138711E08122864
chr721387212138873E08122919
chr721388902140873E08123088
chr721408762140930E08125074
chr721432352143398E08127433
chr721434292143574E08127627
chr721435782145463E08127776
chr721454692147430E08129667
chr721474802147745E08131678
chr721477712151146E08131969
chr721511512151334E08135349
chr721513742151589E08135572
chr721516142151776E08135812
chr721518752152300E08136073
chr721523732152690E08136571
chr721562322156343E08140430
chr721564012156530E08140599
chr721565852157204E08140783
chr721596302160255E08143828
chr721602972160356E08144495
chr721603842160485E08144582
chr721606052160939E08144803
chr720701042070215E082-45587
chr720764302076509E082-39293
chr720765432076625E082-39177
chr721051942105499E082-10303
chr721055582105715E082-10087
chr721083042108384E082-7418
chr721085082108560E082-7242
chr721086522108735E082-7067
chr721087732108976E082-6826
chr721089872109539E082-6263
chr721191272119204E0823325
chr721192712119744E0823469
chr721385282138578E08222726
chr721386662138711E08222864
chr721387212138873E08222919
chr721388902140873E08223088
chr721435782145463E08227776
chr721454692147430E08229667
chr721474802147745E08231678
chr721477712151146E08231969
chr721511512151334E08235349
chr721513742151589E08235572
chr721516142151776E08235812
chr721518752152300E08236073
chr721523732152690E08236571
chr721562322156343E08240430
chr721564012156530E08240599
chr721565852157204E08240783