rs13244286

Homo sapiens
G>A
GTF2IRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0053 (1610/29974,GnomAD)
A=0061 (1799/29118,TOPMED)
A=0058 (291/5008,1000G)
A=0075 (290/3854,ALSPAC)
A=0081 (300/3708,TWINSUK)
chr7:74586350 (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.74586350G>A
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.2115586G>A
GTF2IRD1 RefSeqGeneNG_027954.1:g.137560G>A
GRCh37.p13 chr 7NC_000007.13:g.74000679G>A

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
1000GenomesAfricanSub1322G=0.976A=0.024
1000GenomesAmericanSub694G=0.860A=0.140
1000GenomesEast AsianSub1008G=0.975A=0.025
1000GenomesEuropeSub1006G=0.931A=0.069
1000GenomesGlobalStudy-wide5008G=0.942A=0.058
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.925A=0.075
The Genome Aggregation DatabaseAfricanSub8730G=0.964A=0.036
The Genome Aggregation DatabaseAmericanSub836G=0.860A=0.140
The Genome Aggregation DatabaseEast AsianSub1620G=0.973A=0.027
The Genome Aggregation DatabaseEuropeSub18486G=0.940A=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.946A=0.053
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.938A=0.061
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.919A=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
rs132442863.61E-05alcohol consumption23743675

eQTL of rs13244286 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 rs13244286 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 )
chr720715032071576E067-44010
chr720716252071875E067-43711
chr721086522108735E067-6851
chr721087732108976E067-6610
chr721089872109539E067-6047
chr721095572109706E067-5880
chr721256232125761E06710037
chr721257912125841E06710205
chr721259082126034E06710322
chr721260992126153E06710513
chr721434292143574E06727843
chr721435782145463E06727992
chr721454692147430E06729883
chr721474802147745E06731894
chr721477712151146E06732185
chr721511512151334E06735565
chr721513742151589E06735788
chr721516142151776E06736028
chr721518752152300E06736289
chr721523732152690E06736787
chr721552042155272E06739618
chr721552752155371E06739689
chr721554122156172E06739826
chr721562322156343E06740646
chr721564012156530E06740815
chr721565852157204E06740999
chr721610112161100E06745425
chr721611392161193E06745553
chr721612102161338E06745624
chr721613622161502E06745776
chr721089872109539E068-6047
chr721095572109706E068-5880
chr721256232125761E06810037
chr721257912125841E06810205
chr721259082126034E06810322
chr721434292143574E06827843
chr721435782145463E06827992
chr721454692147430E06829883
chr721474802147745E06831894
chr721477712151146E06832185
chr721511512151334E06835565
chr721513742151589E06835788
chr721516142151776E06836028
chr721554122156172E06839826
chr721562322156343E06840646
chr721564012156530E06840815
chr721565852157204E06840999
chr720706242071398E069-44188
chr720715032071576E069-44010
chr720716252071875E069-43711
chr720719682072014E069-43572
chr720721072072521E069-43065
chr720762422076364E069-39222
chr720917182092297E069-23289
chr721086522108735E069-6851
chr721087732108976E069-6610
chr721089872109539E069-6047
chr721095572109706E069-5880
chr721216792122330E0696093
chr721256232125761E06910037
chr721257912125841E06910205
chr721259082126034E06910322
chr721260992126153E06910513
chr721266572126812E06911071
chr721268732126927E06911287
chr721273172127423E06911731
chr721275032127704E06911917
chr721366452137032E06921059
chr721370722137166E06921486
chr721371832137400E06921597
chr721374372137944E06921851
chr721429962143166E06927410
chr721432352143398E06927649
chr721434292143574E06927843
chr721435782145463E06927992
chr721454692147430E06929883
chr721474802147745E06931894
chr721477712151146E06932185
chr721511512151334E06935565
chr721513742151589E06935788
chr721516142151776E06936028
chr721518752152300E06936289
chr721549002154940E06939314
chr721552042155272E06939618
chr721552752155371E06939689
chr721554122156172E06939826
chr721562322156343E06940646
chr721564012156530E06940815
chr721565852157204E06940999
chr721574252157498E06941839
chr721575432157620E06941957
chr720706242071398E070-44188
chr720715032071576E070-44010
chr720716252071875E070-43711
chr720719682072014E070-43572
chr720721072072521E070-43065
chr720726662072795E070-42791
chr720865872086637E070-28949
chr720867592087165E070-28421
chr721055582105715E070-9871
chr721062222106555E070-9031
chr721085082108560E070-7026
chr721086522108735E070-6851
chr721087732108976E070-6610
chr721089872109539E070-6047
chr721095572109706E070-5880
chr721098402110011E070-5575
chr721101452110276E070-5310
chr721184262118476E0702840
chr721191272119204E0703541
chr721192712119744E0703685
chr721198042119900E0704218
chr721199392120104E0704353
chr721202382120352E0704652
chr721204482120502E0704862
chr721207492120808E0705163
chr721210012121111E0705415
chr721213382121444E0705752
chr721214822121546E0705896
chr721216012121658E0706015
chr721216792122330E0706093
chr721223402122475E0706754
chr721225192122615E0706933
chr721227182122758E0707132
chr721228672122946E0707281
chr721230302123154E0707444
chr721366452137032E07021059
chr721370722137166E07021486
chr721371832137400E07021597
chr721374372137944E07021851
chr721379452138507E07022359
chr721385282138578E07022942
chr721386662138711E07023080
chr721387212138873E07023135
chr721388902140873E07023304
chr721408762140930E07025290
chr721411972141285E07025611
chr721426242142674E07027038
chr721426902142822E07027104
chr721428932142943E07027307
chr721429962143166E07027410
chr721432352143398E07027649
chr721434292143574E07027843
chr721435782145463E07027992
chr721454692147430E07029883
chr721477712151146E07032185
chr721511512151334E07035565
chr721513742151589E07035788
chr721516142151776E07036028
chr721518752152300E07036289
chr721523732152690E07036787
chr721536852154093E07038099
chr721542012154424E07038615
chr721545132154719E07038927
chr721549002154940E07039314
chr721552042155272E07039618
chr721552752155371E07039689
chr721554122156172E07039826
chr721562322156343E07040646
chr721564012156530E07040815
chr721565852157204E07040999
chr721596302160255E07044044
chr721602972160356E07044711
chr721603842160485E07044798
chr721606052160939E07045019
chr721610112161100E07045425
chr721611392161193E07045553
chr721612102161338E07045624
chr721613622161502E07045776
chr721635342163619E07047948
chr721637672163818E07048181
chr721638832164000E07048297
chr720706242071398E071-44188
chr720715032071576E071-44010
chr720716252071875E071-43711
chr720719682072014E071-43572
chr720915052091641E071-23945
chr720917182092297E071-23289
chr720923692092732E071-22854
chr721087732108976E071-6610
chr721089872109539E071-6047
chr721095572109706E071-5880
chr721256232125761E07110037
chr721257912125841E07110205
chr721259082126034E07110322
chr721260992126153E07110513
chr721266572126812E07111071
chr721268732126927E07111287
chr721273172127423E07111731
chr721275032127704E07111917
chr721277462127898E07112160
chr721411972141285E07125611
chr721432352143398E07127649
chr721434292143574E07127843
chr721435782145463E07127992
chr721454692147430E07129883
chr721474802147745E07131894
chr721477712151146E07132185
chr721511512151334E07135565
chr721513742151589E07135788
chr721516142151776E07136028
chr721518752152300E07136289
chr721554122156172E07139826
chr721562322156343E07140646
chr721564012156530E07140815
chr721565852157204E07140999
chr721602972160356E07144711
chr721603842160485E07144798
chr721606052160939E07145019
chr720715032071576E072-44010
chr720716252071875E072-43711
chr720719682072014E072-43572
chr720915052091641E072-23945
chr720917182092297E072-23289
chr721030612103171E072-12415
chr721085082108560E072-7026
chr721086522108735E072-6851
chr721087732108976E072-6610
chr721089872109539E072-6047
chr721095572109706E072-5880
chr721257912125841E07210205
chr721259082126034E07210322
chr721260992126153E07210513
chr721388902140873E07223304
chr721408762140930E07225290
chr721411972141285E07225611
chr721413652142226E07225779
chr721422572142368E07226671
chr721425072142587E07226921
chr721426242142674E07227038
chr721426902142822E07227104
chr721428932142943E07227307
chr721429962143166E07227410
chr721432352143398E07227649
chr721434292143574E07227843
chr721435782145463E07227992
chr721454692147430E07229883
chr721474802147745E07231894
chr721477712151146E07232185
chr721511512151334E07235565
chr721513742151589E07235788
chr721516142151776E07236028
chr721518752152300E07236289
chr721552042155272E07239618
chr721552752155371E07239689
chr721554122156172E07239826
chr721562322156343E07240646
chr721564012156530E07240815
chr721565852157204E07240999
chr721606052160939E07245019
chr721610112161100E07245425
chr721611392161193E07245553
chr721612102161338E07245624
chr721613622161502E07245776
chr720715032071576E073-44010
chr720716252071875E073-43711
chr720719682072014E073-43572
chr720726662072795E073-42791
chr721089872109539E073-6047
chr721095572109706E073-5880
chr721253552125422E0739769
chr721256232125761E07310037
chr721257912125841E07310205
chr721259082126034E07310322
chr721260992126153E07310513
chr721266572126812E07311071
chr721432352143398E07327649
chr721434292143574E07327843
chr721435782145463E07327992
chr721454692147430E07329883
chr721474802147745E07331894
chr721477712151146E07332185
chr721511512151334E07335565
chr721513742151589E07335788
chr721516142151776E07336028
chr721518752152300E07336289
chr721552042155272E07339618
chr721552752155371E07339689
chr721554122156172E07339826
chr721562322156343E07340646
chr721564012156530E07340815
chr721565852157204E07340999
chr720706242071398E074-44188
chr720715032071576E074-44010
chr720716252071875E074-43711
chr721020712102296E074-13290
chr721023742102444E074-13142
chr721024612102565E074-13021
chr721026472102720E074-12866
chr721029462103055E074-12531
chr721030612103171E074-12415
chr721032942103908E074-11678
chr721095572109706E074-5880
chr721098402110011E074-5575
chr721101452110276E074-5310
chr721146702114753E074-833
chr721148162114895E074-691
chr721149582115018E074-568
chr721151432115226E074-360
chr721153002115350E074-236
chr721153732115427E074-159
chr721154532115495E074-91
chr721156012115641E07415
chr721256232125761E07410037
chr721257912125841E07410205
chr721259082126034E07410322
chr721260992126153E07410513
chr721413652142226E07425779
chr721432352143398E07427649
chr721434292143574E07427843
chr721435782145463E07427992
chr721454692147430E07429883
chr721474802147745E07431894
chr721477712151146E07432185
chr721511512151334E07435565
chr721513742151589E07435788
chr721516142151776E07436028
chr721518752152300E07436289
chr721549002154940E07439314
chr721552042155272E07439618
chr721552752155371E07439689
chr721554122156172E07439826
chr721562322156343E07440646
chr721564012156530E07440815
chr721565852157204E07440999
chr721596302160255E07444044
chr721602972160356E07444711
chr721603842160485E07444798
chr721610112161100E07445425
chr721611392161193E07445553
chr720697332069936E081-45650
chr720701042070215E081-45371
chr720702462070296E081-45290
chr720704312070585E081-45001
chr720706242071398E081-44188
chr720715032071576E081-44010
chr720716252071875E081-43711
chr720719682072014E081-43572
chr720721072072521E081-43065
chr720764302076509E081-39077
chr720765432076625E081-38961
chr720816602082062E081-33524
chr720823322082372E081-33214
chr720824162082583E081-33003
chr720827652082805E081-32781
chr720829432083005E081-32581
chr720830502083187E081-32399
chr720832562083318E081-32268
chr720834732083662E081-31924
chr720836872083795E081-31791
chr720877752087825E081-27761
chr720879452088031E081-27555
chr720880722088219E081-27367
chr720884022088498E081-27088
chr720887022088950E081-26636
chr720890502089110E081-26476
chr720891412089693E081-25893
chr721051942105499E081-10087
chr721055582105715E081-9871
chr721087732108976E081-6610
chr721089872109539E081-6047
chr721095572109706E081-5880
chr721204482120502E0814862
chr721207492120808E0815163
chr721210012121111E0815415
chr721213382121444E0815752
chr721214822121546E0815896
chr721216012121658E0816015
chr721216792122330E0816093
chr721223402122475E0816754
chr721225192122615E0816933
chr721227182122758E0817132
chr721228672122946E0817281
chr721230302123154E0817444
chr721256232125761E08110037
chr721335822133746E08117996
chr721385282138578E08122942
chr721386662138711E08123080
chr721387212138873E08123135
chr721388902140873E08123304
chr721408762140930E08125290
chr721432352143398E08127649
chr721434292143574E08127843
chr721435782145463E08127992
chr721454692147430E08129883
chr721474802147745E08131894
chr721477712151146E08132185
chr721511512151334E08135565
chr721513742151589E08135788
chr721516142151776E08136028
chr721518752152300E08136289
chr721523732152690E08136787
chr721562322156343E08140646
chr721564012156530E08140815
chr721565852157204E08140999
chr721596302160255E08144044
chr721602972160356E08144711
chr721603842160485E08144798
chr721606052160939E08145019
chr720701042070215E082-45371
chr720764302076509E082-39077
chr720765432076625E082-38961
chr721051942105499E082-10087
chr721055582105715E082-9871
chr721083042108384E082-7202
chr721085082108560E082-7026
chr721086522108735E082-6851
chr721087732108976E082-6610
chr721089872109539E082-6047
chr721191272119204E0823541
chr721192712119744E0823685
chr721385282138578E08222942
chr721386662138711E08223080
chr721387212138873E08223135
chr721388902140873E08223304
chr721435782145463E08227992
chr721454692147430E08229883
chr721474802147745E08231894
chr721477712151146E08232185
chr721511512151334E08235565
chr721513742151589E08235788
chr721516142151776E08236028
chr721518752152300E08236289
chr721523732152690E08236787
chr721562322156343E08240646
chr721564012156530E08240815
chr721565852157204E08240999