rs13246861

Homo sapiens
A>G
GTF2IRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0060 (1804/29964,GnomAD)
G=0071 (2072/29118,TOPMED)
G=0065 (324/5008,1000G)
G=0076 (291/3854,ALSPAC)
G=0081 (299/3708,TWINSUK)
chr7:74586525 (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.74586525A>G
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.2115761A>G
GTF2IRD1 RefSeqGeneNG_027954.1:g.137735A>G
GRCh37.p13 chr 7NC_000007.13:g.74000854A>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
1000GenomesAfricanSub1322A=0.954G=0.046
1000GenomesAmericanSub694A=0.860G=0.140
1000GenomesEast AsianSub1008A=0.975G=0.025
1000GenomesEuropeSub1006A=0.930G=0.070
1000GenomesGlobalStudy-wide5008A=0.935G=0.065
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.924G=0.076
The Genome Aggregation DatabaseAfricanSub8726A=0.942G=0.058
The Genome Aggregation DatabaseAmericanSub838A=0.860G=0.140
The Genome Aggregation DatabaseEast AsianSub1618A=0.973G=0.027
The Genome Aggregation DatabaseEuropeSub18480A=0.940G=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29964A=0.939G=0.060
The Genome Aggregation DatabaseOtherSub302A=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.928G=0.071
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=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
rs132468614.92E-05alcohol consumption23743675

eQTL of rs13246861 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 rs13246861 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 )
chr720715032071576E067-44185
chr720716252071875E067-43886
chr721086522108735E067-7026
chr721087732108976E067-6785
chr721089872109539E067-6222
chr721095572109706E067-6055
chr721256232125761E0679862
chr721257912125841E06710030
chr721259082126034E06710147
chr721260992126153E06710338
chr721434292143574E06727668
chr721435782145463E06727817
chr721454692147430E06729708
chr721474802147745E06731719
chr721477712151146E06732010
chr721511512151334E06735390
chr721513742151589E06735613
chr721516142151776E06735853
chr721518752152300E06736114
chr721523732152690E06736612
chr721552042155272E06739443
chr721552752155371E06739514
chr721554122156172E06739651
chr721562322156343E06740471
chr721564012156530E06740640
chr721565852157204E06740824
chr721610112161100E06745250
chr721611392161193E06745378
chr721612102161338E06745449
chr721613622161502E06745601
chr721089872109539E068-6222
chr721095572109706E068-6055
chr721256232125761E0689862
chr721257912125841E06810030
chr721259082126034E06810147
chr721434292143574E06827668
chr721435782145463E06827817
chr721454692147430E06829708
chr721474802147745E06831719
chr721477712151146E06832010
chr721511512151334E06835390
chr721513742151589E06835613
chr721516142151776E06835853
chr721554122156172E06839651
chr721562322156343E06840471
chr721564012156530E06840640
chr721565852157204E06840824
chr720706242071398E069-44363
chr720715032071576E069-44185
chr720716252071875E069-43886
chr720719682072014E069-43747
chr720721072072521E069-43240
chr720762422076364E069-39397
chr720917182092297E069-23464
chr721086522108735E069-7026
chr721087732108976E069-6785
chr721089872109539E069-6222
chr721095572109706E069-6055
chr721216792122330E0695918
chr721256232125761E0699862
chr721257912125841E06910030
chr721259082126034E06910147
chr721260992126153E06910338
chr721266572126812E06910896
chr721268732126927E06911112
chr721273172127423E06911556
chr721275032127704E06911742
chr721366452137032E06920884
chr721370722137166E06921311
chr721371832137400E06921422
chr721374372137944E06921676
chr721429962143166E06927235
chr721432352143398E06927474
chr721434292143574E06927668
chr721435782145463E06927817
chr721454692147430E06929708
chr721474802147745E06931719
chr721477712151146E06932010
chr721511512151334E06935390
chr721513742151589E06935613
chr721516142151776E06935853
chr721518752152300E06936114
chr721549002154940E06939139
chr721552042155272E06939443
chr721552752155371E06939514
chr721554122156172E06939651
chr721562322156343E06940471
chr721564012156530E06940640
chr721565852157204E06940824
chr721574252157498E06941664
chr721575432157620E06941782
chr720706242071398E070-44363
chr720715032071576E070-44185
chr720716252071875E070-43886
chr720719682072014E070-43747
chr720721072072521E070-43240
chr720726662072795E070-42966
chr720865872086637E070-29124
chr720867592087165E070-28596
chr721055582105715E070-10046
chr721062222106555E070-9206
chr721085082108560E070-7201
chr721086522108735E070-7026
chr721087732108976E070-6785
chr721089872109539E070-6222
chr721095572109706E070-6055
chr721098402110011E070-5750
chr721101452110276E070-5485
chr721184262118476E0702665
chr721191272119204E0703366
chr721192712119744E0703510
chr721198042119900E0704043
chr721199392120104E0704178
chr721202382120352E0704477
chr721204482120502E0704687
chr721207492120808E0704988
chr721210012121111E0705240
chr721213382121444E0705577
chr721214822121546E0705721
chr721216012121658E0705840
chr721216792122330E0705918
chr721223402122475E0706579
chr721225192122615E0706758
chr721227182122758E0706957
chr721228672122946E0707106
chr721230302123154E0707269
chr721366452137032E07020884
chr721370722137166E07021311
chr721371832137400E07021422
chr721374372137944E07021676
chr721379452138507E07022184
chr721385282138578E07022767
chr721386662138711E07022905
chr721387212138873E07022960
chr721388902140873E07023129
chr721408762140930E07025115
chr721411972141285E07025436
chr721426242142674E07026863
chr721426902142822E07026929
chr721428932142943E07027132
chr721429962143166E07027235
chr721432352143398E07027474
chr721434292143574E07027668
chr721435782145463E07027817
chr721454692147430E07029708
chr721477712151146E07032010
chr721511512151334E07035390
chr721513742151589E07035613
chr721516142151776E07035853
chr721518752152300E07036114
chr721523732152690E07036612
chr721536852154093E07037924
chr721542012154424E07038440
chr721545132154719E07038752
chr721549002154940E07039139
chr721552042155272E07039443
chr721552752155371E07039514
chr721554122156172E07039651
chr721562322156343E07040471
chr721564012156530E07040640
chr721565852157204E07040824
chr721596302160255E07043869
chr721602972160356E07044536
chr721603842160485E07044623
chr721606052160939E07044844
chr721610112161100E07045250
chr721611392161193E07045378
chr721612102161338E07045449
chr721613622161502E07045601
chr721635342163619E07047773
chr721637672163818E07048006
chr721638832164000E07048122
chr720706242071398E071-44363
chr720715032071576E071-44185
chr720716252071875E071-43886
chr720719682072014E071-43747
chr720915052091641E071-24120
chr720917182092297E071-23464
chr720923692092732E071-23029
chr721087732108976E071-6785
chr721089872109539E071-6222
chr721095572109706E071-6055
chr721256232125761E0719862
chr721257912125841E07110030
chr721259082126034E07110147
chr721260992126153E07110338
chr721266572126812E07110896
chr721268732126927E07111112
chr721273172127423E07111556
chr721275032127704E07111742
chr721277462127898E07111985
chr721411972141285E07125436
chr721432352143398E07127474
chr721434292143574E07127668
chr721435782145463E07127817
chr721454692147430E07129708
chr721474802147745E07131719
chr721477712151146E07132010
chr721511512151334E07135390
chr721513742151589E07135613
chr721516142151776E07135853
chr721518752152300E07136114
chr721554122156172E07139651
chr721562322156343E07140471
chr721564012156530E07140640
chr721565852157204E07140824
chr721602972160356E07144536
chr721603842160485E07144623
chr721606052160939E07144844
chr720715032071576E072-44185
chr720716252071875E072-43886
chr720719682072014E072-43747
chr720915052091641E072-24120
chr720917182092297E072-23464
chr721030612103171E072-12590
chr721085082108560E072-7201
chr721086522108735E072-7026
chr721087732108976E072-6785
chr721089872109539E072-6222
chr721095572109706E072-6055
chr721257912125841E07210030
chr721259082126034E07210147
chr721260992126153E07210338
chr721388902140873E07223129
chr721408762140930E07225115
chr721411972141285E07225436
chr721413652142226E07225604
chr721422572142368E07226496
chr721425072142587E07226746
chr721426242142674E07226863
chr721426902142822E07226929
chr721428932142943E07227132
chr721429962143166E07227235
chr721432352143398E07227474
chr721434292143574E07227668
chr721435782145463E07227817
chr721454692147430E07229708
chr721474802147745E07231719
chr721477712151146E07232010
chr721511512151334E07235390
chr721513742151589E07235613
chr721516142151776E07235853
chr721518752152300E07236114
chr721552042155272E07239443
chr721552752155371E07239514
chr721554122156172E07239651
chr721562322156343E07240471
chr721564012156530E07240640
chr721565852157204E07240824
chr721606052160939E07244844
chr721610112161100E07245250
chr721611392161193E07245378
chr721612102161338E07245449
chr721613622161502E07245601
chr720715032071576E073-44185
chr720716252071875E073-43886
chr720719682072014E073-43747
chr720726662072795E073-42966
chr721089872109539E073-6222
chr721095572109706E073-6055
chr721253552125422E0739594
chr721256232125761E0739862
chr721257912125841E07310030
chr721259082126034E07310147
chr721260992126153E07310338
chr721266572126812E07310896
chr721432352143398E07327474
chr721434292143574E07327668
chr721435782145463E07327817
chr721454692147430E07329708
chr721474802147745E07331719
chr721477712151146E07332010
chr721511512151334E07335390
chr721513742151589E07335613
chr721516142151776E07335853
chr721518752152300E07336114
chr721552042155272E07339443
chr721552752155371E07339514
chr721554122156172E07339651
chr721562322156343E07340471
chr721564012156530E07340640
chr721565852157204E07340824
chr720706242071398E074-44363
chr720715032071576E074-44185
chr720716252071875E074-43886
chr721020712102296E074-13465
chr721023742102444E074-13317
chr721024612102565E074-13196
chr721026472102720E074-13041
chr721029462103055E074-12706
chr721030612103171E074-12590
chr721032942103908E074-11853
chr721095572109706E074-6055
chr721098402110011E074-5750
chr721101452110276E074-5485
chr721146702114753E074-1008
chr721148162114895E074-866
chr721149582115018E074-743
chr721151432115226E074-535
chr721153002115350E074-411
chr721153732115427E074-334
chr721154532115495E074-266
chr721156012115641E074-120
chr721256232125761E0749862
chr721257912125841E07410030
chr721259082126034E07410147
chr721260992126153E07410338
chr721413652142226E07425604
chr721432352143398E07427474
chr721434292143574E07427668
chr721435782145463E07427817
chr721454692147430E07429708
chr721474802147745E07431719
chr721477712151146E07432010
chr721511512151334E07435390
chr721513742151589E07435613
chr721516142151776E07435853
chr721518752152300E07436114
chr721549002154940E07439139
chr721552042155272E07439443
chr721552752155371E07439514
chr721554122156172E07439651
chr721562322156343E07440471
chr721564012156530E07440640
chr721565852157204E07440824
chr721596302160255E07443869
chr721602972160356E07444536
chr721603842160485E07444623
chr721610112161100E07445250
chr721611392161193E07445378
chr720697332069936E081-45825
chr720701042070215E081-45546
chr720702462070296E081-45465
chr720704312070585E081-45176
chr720706242071398E081-44363
chr720715032071576E081-44185
chr720716252071875E081-43886
chr720719682072014E081-43747
chr720721072072521E081-43240
chr720764302076509E081-39252
chr720765432076625E081-39136
chr720816602082062E081-33699
chr720823322082372E081-33389
chr720824162082583E081-33178
chr720827652082805E081-32956
chr720829432083005E081-32756
chr720830502083187E081-32574
chr720832562083318E081-32443
chr720834732083662E081-32099
chr720836872083795E081-31966
chr720877752087825E081-27936
chr720879452088031E081-27730
chr720880722088219E081-27542
chr720884022088498E081-27263
chr720887022088950E081-26811
chr720890502089110E081-26651
chr720891412089693E081-26068
chr721051942105499E081-10262
chr721055582105715E081-10046
chr721087732108976E081-6785
chr721089872109539E081-6222
chr721095572109706E081-6055
chr721204482120502E0814687
chr721207492120808E0814988
chr721210012121111E0815240
chr721213382121444E0815577
chr721214822121546E0815721
chr721216012121658E0815840
chr721216792122330E0815918
chr721223402122475E0816579
chr721225192122615E0816758
chr721227182122758E0816957
chr721228672122946E0817106
chr721230302123154E0817269
chr721256232125761E0819862
chr721335822133746E08117821
chr721385282138578E08122767
chr721386662138711E08122905
chr721387212138873E08122960
chr721388902140873E08123129
chr721408762140930E08125115
chr721432352143398E08127474
chr721434292143574E08127668
chr721435782145463E08127817
chr721454692147430E08129708
chr721474802147745E08131719
chr721477712151146E08132010
chr721511512151334E08135390
chr721513742151589E08135613
chr721516142151776E08135853
chr721518752152300E08136114
chr721523732152690E08136612
chr721562322156343E08140471
chr721564012156530E08140640
chr721565852157204E08140824
chr721596302160255E08143869
chr721602972160356E08144536
chr721603842160485E08144623
chr721606052160939E08144844
chr720701042070215E082-45546
chr720764302076509E082-39252
chr720765432076625E082-39136
chr721051942105499E082-10262
chr721055582105715E082-10046
chr721083042108384E082-7377
chr721085082108560E082-7201
chr721086522108735E082-7026
chr721087732108976E082-6785
chr721089872109539E082-6222
chr721191272119204E0823366
chr721192712119744E0823510
chr721385282138578E08222767
chr721386662138711E08222905
chr721387212138873E08222960
chr721388902140873E08223129
chr721435782145463E08227817
chr721454692147430E08229708
chr721474802147745E08231719
chr721477712151146E08232010
chr721511512151334E08235390
chr721513742151589E08235613
chr721516142151776E08235853
chr721518752152300E08236114
chr721523732152690E08236612
chr721562322156343E08240471
chr721564012156530E08240640
chr721565852157204E08240824