rs7240666

Homo sapiens
T>C
ALPK2 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0131 (15991/121388,ExAC)
T==0140 (4203/29974,GnomAD)
T==0144 (4203/29118,TOPMED)
C=0167 (2179/13006,GO-ESP)
T==0078 (393/5008,1000G)
T==0179 (690/3854,ALSPAC)
T==0192 (711/3708,TWINSUK)
chr18:58481867 (GRCh38.p7) (18q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
168 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.58481867T>C
GRCh37.p13 chr 18NC_000018.9:g.56149099T>C

Gene: ALPK2, alpha kinase 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ALPK2 transcriptNM_052947.3:c.646...NM_052947.3:c.6469A>GI [ATA]> V [GTA]Coding Sequence Variant
alpha-protein kinase 2NP_443179.3:p.Ile...NP_443179.3:p.Ile2157ValI [Ile]> V [Val]Missense Variant
ALPK2 transcript variant X3XM_011525801.2:c.N/AGenic Downstream Transcript Variant
ALPK2 transcript variant X1XM_017025535.1:c.N/AGenic Downstream Transcript Variant
ALPK2 transcript variant X2XM_017025536.1:c.N/AGenic Downstream Transcript Variant
ALPK2 transcript variant X5XM_017025537.1:c.N/AGenic Downstream Transcript Variant
ALPK2 transcript variant X4XM_011525802.2:c....XM_011525802.2:c.6187A>GI [ATA]> V [GTA]Coding Sequence Variant
alpha-protein kinase 2 isoform X4XP_011524104.1:p....XP_011524104.1:p.Ile2063ValI [Ile]> V [Val]Missense Variant
ALPK2 transcript variant X6XM_017025538.1:c....XM_017025538.1:c.4462A>GI [ATA]> V [GTA]Coding Sequence Variant
alpha-protein kinase 2 isoform X6XP_016881027.1:p....XP_016881027.1:p.Ile1488ValI [Ile]> V [Val]Missense Variant
ALPK2 transcript variant X7XM_017025539.1:c....XM_017025539.1:c.4462A>GI [ATA]> V [GTA]Coding Sequence Variant
alpha-protein kinase 2 isoform X6XP_016881028.1:p....XP_016881028.1:p.Ile1488ValI [Ile]> V [Val]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.107C=0.893
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.165C=0.835
1000GenomesGlobalStudy-wide5008T=0.078C=0.922
1000GenomesSouth AsianSub978T=0.010C=0.990
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.179C=0.821
The Exome Aggregation ConsortiumAmericanSub21976T=0.097C=0.902
The Exome Aggregation ConsortiumAsianSub25166T=0.024C=0.975
The Exome Aggregation ConsortiumEuropeSub73338T=0.178C=0.821
The Exome Aggregation ConsortiumGlobalStudy-wide121388T=0.131C=0.868
The Exome Aggregation ConsortiumOtherSub908T=0.130C=0.870
The Genome Aggregation DatabaseAfricanSub8728T=0.118C=0.882
The Genome Aggregation DatabaseAmericanSub832T=0.130C=0.870
The Genome Aggregation DatabaseEast AsianSub1622T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18492T=0.161C=0.838
The Genome Aggregation DatabaseGlobalStudy-wide29974T=0.140C=0.859
The Genome Aggregation DatabaseOtherSub300T=0.250C=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.144C=0.855
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.192C=0.808
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs72406666.21E-05alcohol dependence19581569

eQTL of rs7240666 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 rs7240666 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 )
chr185614466756144821E067-4278
chr185615978356159861E06710684
chr185615988856160127E06710789
chr185616013256161581E06711033
chr185612118256121438E068-27661
chr185612144556121536E068-27563
chr185614362756144592E068-4507
chr185615988856160127E06810789
chr185618037056180931E06831271
chr185614362756144592E069-4507
chr185614466756144821E069-4278
chr185615978356159861E06910684
chr185615988856160127E06910789
chr185616013256161581E06911033
chr185618037056180931E06931271
chr185611427456115481E070-33618
chr185611983056120047E070-29052
chr185612009956120205E070-28894
chr185612033456120388E070-28711
chr185612118256121438E070-27661
chr185612144556121536E070-27563
chr185612181656122214E070-26885
chr185612241456122492E070-26607
chr185612271356123241E070-25858
chr185612330256123352E070-25747
chr185612336856123580E070-25519
chr185612365956123760E070-25339
chr185612391356124227E070-24872
chr185612436156124401E070-24698
chr185612472056124770E070-24329
chr185612477556124825E070-24274
chr185612505156125101E070-23998
chr185612534956125399E070-23700
chr185612551856125568E070-23531
chr185612569056125787E070-23312
chr185612609356126246E070-22853
chr185614022856140292E070-8807
chr185614036956140651E070-8448
chr185614195756142057E070-7042
chr185614207456142167E070-6932
chr185614289356143162E070-5937
chr185614320756143286E070-5813
chr185614329756143387E070-5712
chr185614520756145267E070-3832
chr185614680656146875E070-2224
chr185615210856152226E0703009
chr185615229256153268E0703193
chr185615338156153458E0704282
chr185615355256153613E0704453
chr185615790156158020E0708802
chr185615826256158493E0709163
chr185615862956158781E0709530
chr185615884456159087E0709745
chr185615909056159183E0709991
chr185615920756159294E07010108
chr185615952656159766E07010427
chr185615978356159861E07010684
chr185615988856160127E07010789
chr185616013256161581E07011033
chr185616163056161718E07012531
chr185616171956161799E07012620
chr185616183756162119E07012738
chr185616217256162232E07013073
chr185616228556162348E07013186
chr185616251456162896E07013415
chr185616694856167047E07017849
chr185616706356167428E07017964
chr185616744956167880E07018350
chr185616813656169004E07019037
chr185617181556171878E07022716
chr185617195856172020E07022859
chr185617234756172429E07023248
chr185617857056178620E07029471
chr185617868456178790E07029585
chr185618037056180931E07031271
chr185618112256181809E07032023
chr185618212656182248E07033027
chr185618246356182513E07033364
chr185618276456182849E07033665
chr185619452556195495E07045426
chr185614348956143586E071-5513
chr185614362756144592E071-4507
chr185614466756144821E071-4278
chr185615952656159766E07110427
chr185615978356159861E07110684
chr185615988856160127E07110789
chr185616013256161581E07111033
chr185616813656169004E07119037
chr185617897856180349E07129879
chr185618037056180931E07131271
chr185614466756144821E072-4278
chr185615978356159861E07210684
chr185615988856160127E07210789
chr185616013256161581E07211033
chr185614466756144821E073-4278
chr185615988856160127E07310789
chr185616013256161581E07311033
chr185617868456178790E07329585
chr185617897856180349E07329879
chr185614362756144592E074-4507
chr185614466756144821E074-4278
chr185615978356159861E07410684
chr185615988856160127E07410789
chr185616013256161581E07411033
chr185616813656169004E07419037
chr185617897856180349E07429879
chr185611343856113505E081-35594
chr185611356056114267E081-34832
chr185611427456115481E081-33618
chr185612118256121438E081-27661
chr185612144556121536E081-27563
chr185612181656122214E081-26885
chr185612241456122492E081-26607
chr185612271356123241E081-25858
chr185612330256123352E081-25747
chr185612336856123580E081-25519
chr185614289356143162E081-5937
chr185614320756143286E081-5813
chr185614329756143387E081-5712
chr185614348956143586E081-5513
chr185614362756144592E081-4507
chr185614466756144821E081-4278
chr185614520756145267E081-3832
chr185615229256153268E0813193
chr185615338156153458E0814282
chr185615952656159766E08110427
chr185615978356159861E08110684
chr185615988856160127E08110789
chr185616013256161581E08111033
chr185617897856180349E08129879
chr185618037056180931E08131271
chr185618112256181809E08132023
chr185618212656182248E08133027
chr185618246356182513E08133364
chr185618276456182849E08133665
chr185618311556183159E08134016
chr185618334656183496E08134247
chr185618355956183638E08134460
chr185618379856183857E08134699
chr185611083156110952E082-38147
chr185611325256113302E082-35797
chr185611343856113505E082-35594
chr185611356056114267E082-34832
chr185611427456115481E082-33618
chr185612181656122214E082-26885
chr185612330256123352E082-25747
chr185612336856123580E082-25519
chr185612391356124227E082-24872
chr185614320756143286E082-5813
chr185614329756143387E082-5712
chr185614348956143586E082-5513
chr185614362756144592E082-4507
chr185614466756144821E082-4278
chr185615229256153268E0823193
chr185615338156153458E0824282
chr185615952656159766E08210427
chr185615978356159861E08210684
chr185615988856160127E08210789
chr185616013256161581E08211033
chr185616163056161718E08212531
chr185616171956161799E08212620
chr185616183756162119E08212738
chr185617857056178620E08229471
chr185617868456178790E08229585
chr185617897856180349E08229879
chr185618037056180931E08231271
chr185618112256181809E08232023
chr185618212656182248E08233027