rs10821716

Homo sapiens
C>T
ANK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0407 (12185/29910,GnomAD)
C==0409 (11911/29118,TOPMED)
C==0349 (1747/5008,1000G)
C==0379 (1459/3854,ALSPAC)
C==0390 (1446/3708,TWINSUK)
chr10:60310995 (GRCh38.p7) (10q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.60310995C>T
GRCh37.p13 chr 10NC_000010.10:g.62070753C>T
ANK3 RefSeqGeneNG_029917.1:g.427532G>A

Gene: ANK3, ankyrin 3, node of Ranvier (ankyrin G)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANK3 transcript variant 3NM_001204403.1:c.N/AIntron Variant
ANK3 transcript variant 4NM_001204404.1:c.N/AIntron Variant
ANK3 transcript variant 5NM_001320874.1:c.N/AIntron Variant
ANK3 transcript variant 1NM_020987.4:c.N/AIntron Variant
ANK3 transcript variant 2NM_001149.3:c.N/AGenic Upstream Transcript Variant
ANK3 transcript variant X38XM_005269715.3:c.N/AIntron Variant
ANK3 transcript variant X25XM_006717796.3:c.N/AIntron Variant
ANK3 transcript variant X34XM_006717802.3:c.N/AIntron Variant
ANK3 transcript variant X24XM_011539708.2:c.N/AIntron Variant
ANK3 transcript variant X27XM_011539709.2:c.N/AIntron Variant
ANK3 transcript variant X1XM_017016110.1:c.N/AIntron Variant
ANK3 transcript variant X2XM_017016111.1:c.N/AIntron Variant
ANK3 transcript variant X3XM_017016112.1:c.N/AIntron Variant
ANK3 transcript variant X4XM_017016113.1:c.N/AIntron Variant
ANK3 transcript variant X6XM_017016114.1:c.N/AIntron Variant
ANK3 transcript variant X16XM_017016116.1:c.N/AIntron Variant
ANK3 transcript variant X17XM_017016117.1:c.N/AIntron Variant
ANK3 transcript variant X19XM_017016118.1:c.N/AIntron Variant
ANK3 transcript variant X20XM_017016119.1:c.N/AIntron Variant
ANK3 transcript variant X21XM_017016120.1:c.N/AIntron Variant
ANK3 transcript variant X22XM_017016121.1:c.N/AIntron Variant
ANK3 transcript variant X26XM_017016122.1:c.N/AIntron Variant
ANK3 transcript variant X28XM_017016123.1:c.N/AIntron Variant
ANK3 transcript variant X29XM_017016124.1:c.N/AIntron Variant
ANK3 transcript variant X30XM_017016125.1:c.N/AIntron Variant
ANK3 transcript variant X31XM_017016126.1:c.N/AIntron Variant
ANK3 transcript variant X32XM_017016127.1:c.N/AIntron Variant
ANK3 transcript variant X35XM_017016128.1:c.N/AIntron Variant
ANK3 transcript variant X36XM_017016129.1:c.N/AIntron Variant
ANK3 transcript variant X39XM_017016130.1:c.N/AIntron Variant
ANK3 transcript variant X40XM_017016131.1:c.N/AIntron Variant
ANK3 transcript variant X41XM_017016132.1:c.N/AIntron Variant
ANK3 transcript variant X29XM_017016133.1:c.N/AIntron Variant
ANK3 transcript variant X42XM_017016134.1:c.N/AIntron Variant
ANK3 transcript variant X31XM_017016135.1:c.N/AIntron Variant
ANK3 transcript variant X43XM_017016136.1:c.N/AIntron Variant
ANK3 transcript variant X44XM_017016137.1:c.N/AIntron Variant
ANK3 transcript variant X45XM_017016138.1:c.N/AIntron Variant
ANK3 transcript variant X35XM_017016139.1:c.N/AIntron Variant
ANK3 transcript variant X36XM_017016140.1:c.N/AIntron Variant
ANK3 transcript variant X46XM_017016141.1:c.N/AIntron Variant
ANK3 transcript variant X38XM_017016142.1:c.N/AIntron Variant
ANK3 transcript variant X39XM_017016143.1:c.N/AIntron Variant
ANK3 transcript variant X40XM_017016144.1:c.N/AIntron Variant
ANK3 transcript variant X41XM_017016145.1:c.N/AIntron Variant
ANK3 transcript variant X42XM_017016146.1:c.N/AIntron Variant
ANK3 transcript variant X43XM_017016147.1:c.N/AIntron Variant
ANK3 transcript variant X44XM_017016148.1:c.N/AIntron Variant
ANK3 transcript variant X45XM_017016149.1:c.N/AIntron Variant
ANK3 transcript variant X46XM_017016150.1:c.N/AIntron Variant
ANK3 transcript variant X10XM_017016115.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.474T=0.526
1000GenomesAmericanSub694C=0.360T=0.640
1000GenomesEast AsianSub1008C=0.304T=0.696
1000GenomesEuropeSub1006C=0.381T=0.619
1000GenomesGlobalStudy-wide5008C=0.349T=0.651
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.379T=0.621
The Genome Aggregation DatabaseAfricanSub8712C=0.449T=0.551
The Genome Aggregation DatabaseAmericanSub832C=0.360T=0.640
The Genome Aggregation DatabaseEast AsianSub1616C=0.297T=0.703
The Genome Aggregation DatabaseEuropeSub18448C=0.401T=0.599
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.407T=0.592
The Genome Aggregation DatabaseOtherSub302C=0.320T=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.409T=0.590
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.390T=0.610
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs108217160.000633alcohol dependence21314694

eQTL of rs10821716 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 rs10821716 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 )
chr106202234662022403E067-48350
chr106202254662022787E067-47966
chr106202295462023004E067-47749
chr106203627262036332E067-34421
chr106204073562040816E067-29937
chr106204085062040943E067-29810
chr106204107862041396E067-29357
chr106204142062041765E067-28988
chr106204180462041970E067-28783
chr106204199762042332E067-28421
chr106204841462048520E067-22233
chr106204879962048872E067-21881
chr106204900062049135E067-21618
chr106204923762049349E067-21404
chr106204952662049741E067-21012
chr106204979662049959E067-20794
chr106205038262050524E067-20229
chr106205060762051170E067-19583
chr106205118362051389E067-19364
chr106205159262051693E067-19060
chr106205273362052819E067-17934
chr106205285462053035E067-17718
chr106205304462053153E067-17600
chr106205389462054275E067-16478
chr106205437162054415E067-16338
chr106205470662055092E067-15661
chr106205795962058873E067-11880
chr106205896962059043E067-11710
chr106205910062059407E067-11346
chr106205972762060769E067-9984
chr106206078762060881E067-9872
chr106206772462067893E067-2860
chr106206835862068472E067-2281
chr106206895562069005E067-1748
chr106207216462072240E0671411
chr106207256062072793E0671807
chr106207287362073348E0672120
chr106207398862074066E0673235
chr106207551862075615E0674765
chr106207576462075899E0675011
chr106208275162082911E06711998
chr106208298662083292E06712233
chr106209680162096934E06726048
chr106209750762097584E06726754
chr106209912062099335E06728367
chr106209946162099517E06728708
chr106209961962099761E06728866
chr106210146462101524E06730711
chr106210248662102546E06731733
chr106210274562102805E06731992
chr106210797062108023E06737217
chr106210817962108454E06737426
chr106210857362108633E06737820
chr106210868162109171E06737928
chr106210929762109437E06738544
chr106210947662109666E06738723
chr106210979862109867E06739045
chr106210993562110276E06739182
chr106211028862110504E06739535
chr106211052562110681E06739772
chr106211077562110819E06740022
chr106211083462111329E06740081
chr106211133762111579E06740584
chr106211179762112017E06741044
chr106211210162112307E06741348
chr106211244462112494E06741691
chr106211314662113204E06742393
chr106211330462113804E06742551
chr106211380962114546E06743056
chr106211525462115363E06744501
chr106211551262115623E06744759
chr106211571762115768E06744964
chr106211577162115833E06745018
chr106211597862116084E06745225
chr106211610262116175E06745349
chr106211618262116222E06745429
chr106211886262118928E06748109
chr106211901762119141E06748264
chr106202234662022403E068-48350
chr106202254662022787E068-47966
chr106202295462023004E068-47749
chr106203627262036332E068-34421
chr106204043462040628E068-30125
chr106204073562040816E068-29937
chr106204085062040943E068-29810
chr106204107862041396E068-29357
chr106204142062041765E068-28988
chr106204180462041970E068-28783
chr106204199762042332E068-28421
chr106205060762051170E068-19583
chr106205118362051389E068-19364
chr106205159262051693E068-19060
chr106205285462053035E068-17718
chr106205304462053153E068-17600
chr106205324662053831E068-16922
chr106205389462054275E068-16478
chr106205910062059407E068-11346
chr106205972762060769E068-9984
chr106206772462067893E068-2860
chr106206835862068472E068-2281
chr106206895562069005E068-1748
chr106206926962069313E068-1440
chr106207287362073348E0682120
chr106207337862073671E0682625
chr106207398862074066E0683235
chr106207415762074523E0683404
chr106207520462075306E0684451
chr106209680162096934E06826048
chr106210797062108023E06837217
chr106210817962108454E06837426
chr106210857362108633E06837820
chr106210868162109171E06837928
chr106210929762109437E06838544
chr106210947662109666E06838723
chr106210979862109867E06839045
chr106210993562110276E06839182
chr106211028862110504E06839535
chr106211052562110681E06839772
chr106211077562110819E06840022
chr106211083462111329E06840081
chr106211133762111579E06840584
chr106211179762112017E06841044
chr106211210162112307E06841348
chr106211244462112494E06841691
chr106211262562112675E06841872
chr106211278962112829E06842036
chr106211314662113204E06842393
chr106211330462113804E06842551
chr106211380962114546E06843056
chr106211551262115623E06844759
chr106211571762115768E06844964
chr106211577162115833E06845018
chr106211597862116084E06845225
chr106202158562021685E069-49068
chr106202234662022403E069-48350
chr106202254662022787E069-47966
chr106202295462023004E069-47749
chr106204107862041396E069-29357
chr106204142062041765E069-28988
chr106204180462041970E069-28783
chr106204199762042332E069-28421
chr106204513662045234E069-25519
chr106204533962045553E069-25200
chr106205038262050524E069-20229
chr106205060762051170E069-19583
chr106205118362051389E069-19364
chr106205159262051693E069-19060
chr106205795962058873E069-11880
chr106205896962059043E069-11710
chr106205910062059407E069-11346
chr106205972762060769E069-9984
chr106206078762060881E069-9872
chr106206515862065416E069-5337
chr106206772462067893E069-2860
chr106207398862074066E0693235
chr106207415762074523E0693404
chr106207471262074835E0693959
chr106207520462075306E0694451
chr106207535762075419E0694604
chr106207551862075615E0694765
chr106207576462075899E0695011
chr106207603662076159E0695283
chr106208051062080700E0699757
chr106209176462092414E06921011
chr106209561662095738E06924863
chr106209592862096000E06925175
chr106209680162096934E06926048
chr106209750762097584E06926754
chr106209773562097785E06926982
chr106209782862098615E06927075
chr106209868762098784E06927934
chr106209879162098887E06928038
chr106209912062099335E06928367
chr106209946162099517E06928708
chr106210248662102546E06931733
chr106210274562102805E06931992
chr106210314462103245E06932391
chr106210343462103506E06932681
chr106210358462103634E06932831
chr106210366662103716E06932913
chr106210376362103813E06933010
chr106210424462104294E06933491
chr106210470262104742E06933949
chr106210590562106022E06935152
chr106210611562106174E06935362
chr106210797062108023E06937217
chr106210817962108454E06937426
chr106210857362108633E06937820
chr106210868162109171E06937928
chr106210929762109437E06938544
chr106210947662109666E06938723
chr106210979862109867E06939045
chr106210993562110276E06939182
chr106211028862110504E06939535
chr106211052562110681E06939772
chr106211077562110819E06940022
chr106211083462111329E06940081
chr106211133762111579E06940584
chr106211179762112017E06941044
chr106211210162112307E06941348
chr106211244462112494E06941691
chr106211262562112675E06941872
chr106211278962112829E06942036
chr106211314662113204E06942393
chr106211330462113804E06942551
chr106211380962114546E06943056
chr106211525462115363E06944501
chr106211551262115623E06944759
chr106211571762115768E06944964
chr106211577162115833E06945018
chr106211597862116084E06945225
chr106211610262116175E06945349
chr106211618262116222E06945429
chr106204043462040628E070-30125
chr106204073562040816E070-29937
chr106204085062040943E070-29810
chr106204107862041396E070-29357
chr106209176462092414E07021011
chr106209782862098615E07027075
chr106209868762098784E07027934
chr106209879162098887E07028038
chr106211052562110681E07039772
chr106211077562110819E07040022
chr106211083462111329E07040081
chr106211133762111579E07040584
chr106211179762112017E07041044
chr106202234662022403E071-48350
chr106202254662022787E071-47966
chr106202295462023004E071-47749
chr106202544862025736E071-45017
chr106202633662026577E071-44176
chr106204043462040628E071-30125
chr106204073562040816E071-29937
chr106204085062040943E071-29810
chr106204107862041396E071-29357
chr106204142062041765E071-28988
chr106204180462041970E071-28783
chr106204199762042332E071-28421
chr106204252662042954E071-27799
chr106204309862043212E071-27541
chr106204329162043581E071-27172
chr106204417862044232E071-26521
chr106204513662045234E071-25519
chr106204533962045553E071-25200
chr106204562362045663E071-25090
chr106204569362045799E071-24954
chr106204879962048872E071-21881
chr106204900062049135E071-21618
chr106204923762049349E071-21404
chr106204952662049741E071-21012
chr106204979662049959E071-20794
chr106205038262050524E071-20229
chr106205060762051170E071-19583
chr106205118362051389E071-19364
chr106205159262051693E071-19060
chr106205273362052819E071-17934
chr106205285462053035E071-17718
chr106205304462053153E071-17600
chr106205324662053831E071-16922
chr106205389462054275E071-16478
chr106205795962058873E071-11880
chr106205896962059043E071-11710
chr106205910062059407E071-11346
chr106206078762060881E071-9872
chr106206463962064930E071-5823
chr106206772462067893E071-2860
chr106206835862068472E071-2281
chr106207398862074066E0713235
chr106207415762074523E0713404
chr106207551862075615E0714765
chr106207576462075899E0715011
chr106208051062080700E0719757
chr106208298662083292E07112233
chr106208371562083755E07112962
chr106208414062084190E07113387
chr106208421562084369E07113462
chr106208504862085115E07114295
chr106208512762085177E07114374
chr106209176462092414E07121011
chr106209482562094981E07124072
chr106209561662095738E07124863
chr106209592862096000E07125175
chr106209680162096934E07126048
chr106209750762097584E07126754
chr106209773562097785E07126982
chr106209782862098615E07127075
chr106209868762098784E07127934
chr106209879162098887E07128038
chr106209912062099335E07128367
chr106209946162099517E07128708
chr106209961962099761E07128866
chr106209985462099904E07129101
chr106210002262100088E07129269
chr106210077262100822E07130019
chr106210087562101032E07130122
chr106210343462103506E07132681
chr106210358462103634E07132831
chr106210366662103716E07132913
chr106210376362103813E07133010
chr106210424462104294E07133491
chr106210470262104742E07133949
chr106210797062108023E07137217
chr106210817962108454E07137426
chr106210857362108633E07137820
chr106210868162109171E07137928
chr106210929762109437E07138544
chr106210947662109666E07138723
chr106210979862109867E07139045
chr106210993562110276E07139182
chr106211028862110504E07139535
chr106211052562110681E07139772
chr106211077562110819E07140022
chr106211083462111329E07140081
chr106211133762111579E07140584
chr106211179762112017E07141044
chr106211210162112307E07141348
chr106211244462112494E07141691
chr106211262562112675E07141872
chr106211278962112829E07142036
chr106211314662113204E07142393
chr106211330462113804E07142551
chr106211380962114546E07143056
chr106211551262115623E07144759
chr106211571762115768E07144964
chr106211577162115833E07145018
chr106211597862116084E07145225
chr106211610262116175E07145349
chr106211618262116222E07145429
chr106211771162117761E07146958
chr106211797962118507E07147226
chr106211857362118627E07147820
chr106211886262118928E07148109
chr106211901762119141E07148264
chr106212022062120274E07149467
chr106212039362120465E07149640
chr106202254662022787E072-47966
chr106202295462023004E072-47749
chr106204043462040628E072-30125
chr106204073562040816E072-29937
chr106204085062040943E072-29810
chr106204879962048872E072-21881
chr106204923762049349E072-21404
chr106204952662049741E072-21012
chr106204979662049959E072-20794
chr106205038262050524E072-20229
chr106205060762051170E072-19583
chr106205118362051389E072-19364
chr106205159262051693E072-19060
chr106205273362052819E072-17934
chr106205285462053035E072-17718
chr106205304462053153E072-17600
chr106205324662053831E072-16922
chr106205389462054275E072-16478
chr106205437162054415E072-16338
chr106205470662055092E072-15661
chr106205795962058873E072-11880
chr106205910062059407E072-11346
chr106206078762060881E072-9872
chr106206100062061167E072-9586
chr106206121562061274E072-9479
chr106206158162061743E072-9010
chr106206189062061944E072-8809
chr106206463962064930E072-5823
chr106207060662070890E0720
chr106207287362073348E0722120
chr106207471262074835E0723959
chr106207520462075306E0724451
chr106207576462075899E0725011
chr106207833162078462E0727578
chr106208051062080700E0729757
chr106208275162082911E07211998
chr106208298662083292E07212233
chr106208371562083755E07212962
chr106208414062084190E07213387
chr106208421562084369E07213462
chr106208504862085115E07214295
chr106208512762085177E07214374
chr106209176462092414E07221011
chr106209561662095738E07224863
chr106209592862096000E07225175
chr106209680162096934E07226048
chr106209750762097584E07226754
chr106209773562097785E07226982
chr106209782862098615E07227075
chr106209868762098784E07227934
chr106209879162098887E07228038
chr106209912062099335E07228367
chr106209946162099517E07228708
chr106209961962099761E07228866
chr106210146462101524E07230711
chr106210248662102546E07231733
chr106210424462104294E07233491
chr106210470262104742E07233949
chr106210590562106022E07235152
chr106210611562106174E07235362
chr106210644262106509E07235689
chr106210661762106688E07235864
chr106210797062108023E07237217
chr106210817962108454E07237426
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