rs10502221

Homo sapiens
C>T
SIK3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0283 (8452/29842,GnomAD)
T=0267 (7786/29118,TOPMED)
T=0207 (1035/5008,1000G)
T=0429 (1655/3854,ALSPAC)
T=0423 (1569/3708,TWINSUK)
chr11:116956154 (GRCh38.p7) (11q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.116956154C>T
GRCh37.p13 chr 11NC_000011.9:g.116826870C>T

Gene: SIK3, SIK family kinase 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SIK3 transcript variant 2NM_001281748.1:c.N/AIntron Variant
SIK3 transcript variant 3NM_001281749.1:c.N/AIntron Variant
SIK3 transcript variant 1NM_025164.4:c.N/AIntron Variant
SIK3 transcript variant X1XM_005271481.2:c.N/AIntron Variant
SIK3 transcript variant X2XM_005271482.4:c.N/AIntron Variant
SIK3 transcript variant X4XM_005271484.3:c.N/AIntron Variant
SIK3 transcript variant X2XM_011542721.2:c.N/AIntron Variant
SIK3 transcript variant X3XM_011542722.1:c.N/AIntron Variant
SIK3 transcript variant X10XM_011542725.2:c.N/AIntron Variant
SIK3 transcript variant X13XM_011542726.1:c.N/AIntron Variant
SIK3 transcript variant X5XM_017017424.1:c.N/AIntron Variant
SIK3 transcript variant X11XM_005271485.3:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X6XM_011542723.2:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X8XM_011542724.2:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X7XM_017017425.1:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X9XM_017017426.1:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X12XM_017017427.1:c.N/AGenic Upstream Transcript Variant
SIK3 transcript variant X14XR_001747816.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.962T=0.038
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.794T=0.206
1000GenomesEuropeSub1006C=0.579T=0.421
1000GenomesGlobalStudy-wide5008C=0.793T=0.207
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.571T=0.429
The Genome Aggregation DatabaseAfricanSub8706C=0.909T=0.091
The Genome Aggregation DatabaseAmericanSub836C=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1616C=0.780T=0.220
The Genome Aggregation DatabaseEuropeSub18386C=0.620T=0.379
The Genome Aggregation DatabaseGlobalStudy-wide29842C=0.716T=0.283
The Genome Aggregation DatabaseOtherSub298C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.732T=0.267
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.577T=0.423
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105022216.95E-05alcohol consumptionpha001399

eQTL of rs10502221 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 rs10502221 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 )
chr11116777226116777479E067-49391
chr11116777674116777772E067-49098
chr11116789686116789746E067-37124
chr11116789813116789937E067-36933
chr11116789941116790077E067-36793
chr11116790118116790224E067-36646
chr11116790276116790385E067-36485
chr11116790685116790734E067-36136
chr11116790753116790845E067-36025
chr11116791089116791139E067-35731
chr11116791295116791415E067-35455
chr11116797696116798775E067-28095
chr11116798893116799535E067-27335
chr11116799551116799666E067-27204
chr11116799674116799862E067-27008
chr11116799892116800143E067-26727
chr11116800214116801730E067-25140
chr11116817136116817495E067-9375
chr11116819899116820185E067-6685
chr11116820574116820624E067-6246
chr11116820681116820793E067-6077
chr11116820900116820958E067-5912
chr11116820959116821052E067-5818
chr11116821251116821301E067-5569
chr11116821334116821585E067-5285
chr11116823139116823201E067-3669
chr11116823329116823396E067-3474
chr11116823768116823857E067-3013
chr11116823943116824001E067-2869
chr11116824165116824205E067-2665
chr11116824303116824619E067-2251
chr11116826366116826656E067-214
chr11116826680116826999E0670
chr11116828907116828961E0672037
chr11116829096116829342E0672226
chr11116829404116829591E0672534
chr11116829598116829648E0672728
chr11116829677116829717E0672807
chr11116829811116829875E0672941
chr11116829982116830041E0673112
chr11116830078116830134E0673208
chr11116830224116830450E0673354
chr11116830981116831031E0674111
chr11116831144116831215E0674274
chr11116831326116831376E0674456
chr11116831559116831606E0674689
chr11116831654116832008E0674784
chr11116832072116832156E0675202
chr11116832189116832421E0675319
chr11116832424116832627E0675554
chr11116832707116833142E0675837
chr11116834954116835004E0678084
chr11116835139116835215E0678269
chr11116837210116837260E06710340
chr11116837879116837953E06711009
chr11116837980116838068E06711110
chr11116838338116838418E06711468
chr11116838429116838566E06711559
chr11116843082116843207E06716212
chr11116843272116843952E06716402
chr11116843989116844240E06717119
chr11116850637116850725E06723767
chr11116851413116851554E06724543
chr11116851616116851720E06724746
chr11116851900116851995E06725030
chr11116852837116853006E06725967
chr11116854025116854085E06727155
chr11116854399116854539E06727529
chr11116854667116854734E06727797
chr11116854793116856104E06727923
chr11116856167116856217E06729297
chr11116856713116856767E06729843
chr11116857000116858009E06730130
chr11116858129116858251E06731259
chr11116858276116858355E06731406
chr11116858369116858611E06731499
chr11116859638116859748E06732768
chr11116859778116860194E06732908
chr11116860252116861570E06733382
chr11116861679116861775E06734809
chr11116861794116861844E06734924
chr11116861926116861983E06735056
chr11116861997116862047E06735127
chr11116862100116862168E06735230
chr11116862404116862581E06735534
chr11116863261116863389E06736391
chr11116863574116863629E06736704
chr11116864198116865285E06737328
chr11116865311116865512E06738441
chr11116867631116867706E06740761
chr11116867779116867854E06740909
chr11116867922116868096E06741052
chr11116868271116868329E06741401
chr11116868343116868450E06741473
chr11116869668116869708E06742798
chr11116869831116869881E06742961
chr11116870822116871164E06743952
chr11116871318116871623E06744448
chr11116873067116873135E06746197
chr11116873176116873348E06746306
chr11116873394116874183E06746524
chr11116874787116875005E06747917
chr11116875222116875272E06748352
chr11116875382116875495E06748512
chr11116875526116875566E06748656
chr11116875659116875709E06748789
chr11116876469116876778E06749599
chr11116776964116777070E068-49800
chr11116777226116777479E068-49391
chr11116777674116777772E068-49098
chr11116781223116781497E068-45373
chr11116781621116781707E068-45163
chr11116789024116789114E068-37756
chr11116789147116789187E068-37683
chr11116789407116789457E068-37413
chr11116789686116789746E068-37124
chr11116789813116789937E068-36933
chr11116789941116790077E068-36793
chr11116790118116790224E068-36646
chr11116790276116790385E068-36485
chr11116790685116790734E068-36136
chr11116790753116790845E068-36025
chr11116791089116791139E068-35731
chr11116791295116791415E068-35455
chr11116791429116791501E068-35369
chr11116791518116791601E068-35269
chr11116791627116791667E068-35203
chr11116791696116791782E068-35088
chr11116798893116799535E068-27335
chr11116799551116799666E068-27204
chr11116799674116799862E068-27008
chr11116799892116800143E068-26727
chr11116800214116801730E068-25140
chr11116801793116803331E068-23539
chr11116803344116803432E068-23438
chr11116816879116816935E068-9935
chr11116816949116817074E068-9796
chr11116817136116817495E068-9375
chr11116819758116819875E068-6995
chr11116819899116820185E068-6685
chr11116820574116820624E068-6246
chr11116820681116820793E068-6077
chr11116820900116820958E068-5912
chr11116820959116821052E068-5818
chr11116821251116821301E068-5569
chr11116821334116821585E068-5285
chr11116821679116821806E068-5064
chr11116821833116821886E068-4984
chr11116822315116822371E068-4499
chr11116822520116822570E068-4300
chr11116823139116823201E068-3669
chr11116823329116823396E068-3474
chr11116823768116823857E068-3013
chr11116823943116824001E068-2869
chr11116824165116824205E068-2665
chr11116824303116824619E068-2251
chr11116824665116824846E068-2024
chr11116824877116824953E068-1917
chr11116825016116825085E068-1785
chr11116825148116825230E068-1640
chr11116826366116826656E068-214
chr11116826680116826999E0680
chr11116828907116828961E0682037
chr11116829096116829342E0682226
chr11116829404116829591E0682534
chr11116829598116829648E0682728
chr11116829677116829717E0682807
chr11116829811116829875E0682941
chr11116829982116830041E0683112
chr11116830078116830134E0683208
chr11116830224116830450E0683354
chr11116831559116831606E0684689
chr11116831654116832008E0684784
chr11116832072116832156E0685202
chr11116832189116832421E0685319
chr11116832424116832627E0685554
chr11116832707116833142E0685837
chr11116833336116833396E0686466
chr11116833783116833839E0686913
chr11116833915116834045E0687045
chr11116834117116834157E0687247
chr11116834179116834219E0687309
chr11116837879116837953E06811009
chr11116837980116838068E06811110
chr11116838338116838418E06811468
chr11116838429116838566E06811559
chr11116840335116840447E06813465
chr11116840500116840595E06813630
chr11116840636116840686E06813766
chr11116840732116840823E06813862
chr11116840916116840996E06814046
chr11116843272116843952E06816402
chr11116843989116844240E06817119
chr11116844444116844494E06817574
chr11116844628116844713E06817758
chr11116844988116845049E06818118
chr11116845166116845216E06818296
chr11116847801116848320E06820931
chr11116850637116850725E06823767
chr11116851413116851554E06824543
chr11116851616116851720E06824746
chr11116851900116851995E06825030
chr11116852069116852153E06825199
chr11116852189116852482E06825319
chr11116852600116852654E06825730
chr11116852702116852781E06825832
chr11116854399116854539E06827529
chr11116854667116854734E06827797
chr11116854793116856104E06827923
chr11116856167116856217E06829297
chr11116856713116856767E06829843
chr11116857000116858009E06830130
chr11116858129116858251E06831259
chr11116858276116858355E06831406
chr11116858369116858611E06831499
chr11116858789116858914E06831919
chr11116859638116859748E06832768
chr11116860252116861570E06833382
chr11116861679116861775E06834809
chr11116861794116861844E06834924
chr11116861926116861983E06835056
chr11116861997116862047E06835127
chr11116862100116862168E06835230
chr11116863261116863389E06836391
chr11116863574116863629E06836704
chr11116864029116864183E06837159
chr11116865311116865512E06838441
chr11116865614116865683E06838744
chr11116865719116865769E06838849
chr11116866220116866388E06839350
chr11116867779116867854E06840909
chr11116867922116868096E06841052
chr11116870822116871164E06843952
chr11116871318116871623E06844448
chr11116871763116871917E06844893
chr11116872256116872344E06845386
chr11116872614116872737E06845744
chr11116873067116873135E06846197
chr11116873176116873348E06846306
chr11116873394116874183E06846524
chr11116874787116875005E06847917
chr11116875222116875272E06848352
chr11116875382116875495E06848512
chr11116875526116875566E06848656
chr11116875659116875709E06848789
chr11116876469116876778E06849599
chr11116776964116777070E069-49800
chr11116777226116777479E069-49391
chr11116789024116789114E069-37756
chr11116789147116789187E069-37683
chr11116789407116789457E069-37413
chr11116789686116789746E069-37124
chr11116790685116790734E069-36136
chr11116790753116790845E069-36025
chr11116791089116791139E069-35731
chr11116798893116799535E069-27335
chr11116799551116799666E069-27204
chr11116799674116799862E069-27008
chr11116799892116800143E069-26727
chr11116800214116801730E069-25140
chr11116801793116803331E069-23539
chr11116819758116819875E069-6995
chr11116819899116820185E069-6685
chr11116820574116820624E069-6246
chr11116820681116820793E069-6077
chr11116820900116820958E069-5912
chr11116820959116821052E069-5818
chr11116821251116821301E069-5569
chr11116821334116821585E069-5285
chr11116824165116824205E069-2665
chr11116824303116824619E069-2251
chr11116826206116826328E069-542
chr11116826366116826656E069-214
chr11116828008116828048E0691138
chr11116828163116828214E0691293
chr11116828302116828478E0691432
chr11116828907116828961E0692037
chr11116829096116829342E0692226
chr11116829404116829591E0692534
chr11116829598116829648E0692728
chr11116829677116829717E0692807
chr11116829811116829875E0692941
chr11116829982116830041E0693112
chr11116830078116830134E0693208
chr11116830224116830450E0693354
chr11116830981116831031E0694111
chr11116831144116831215E0694274
chr11116831326116831376E0694456
chr11116831559116831606E0694689
chr11116831654116832008E0694784
chr11116832072116832156E0695202
chr11116832189116832421E0695319
chr11116832424116832627E0695554
chr11116832707116833142E0695837
chr11116834179116834219E0697309
chr11116834307116834431E0697437
chr11116834673116834776E0697803
chr11116834954116835004E0698084
chr11116835139116835215E0698269
chr11116838338116838418E06911468
chr11116838429116838566E06911559
chr11116840500116840595E06913630
chr11116840636116840686E06913766
chr11116843082116843207E06916212
chr11116843272116843952E06916402
chr11116843989116844240E06917119
chr11116844444116844494E06917574
chr11116844628116844713E06917758
chr11116844988116845049E06918118
chr11116845166116845216E06918296
chr11116847162116847308E06920292
chr11116847357116847407E06920487
chr11116847414116847499E06920544
chr11116847801116848320E06920931
chr11116849076116849257E06922206
chr11116850637116850725E06923767
chr11116851413116851554E06924543
chr11116851616116851720E06924746
chr11116851900116851995E06925030
chr11116852069116852153E06925199
chr11116854399116854539E06927529
chr11116854667116854734E06927797
chr11116854793116856104E06927923
chr11116856167116856217E06929297
chr11116856713116856767E06929843
chr11116857000116858009E06930130
chr11116858129116858251E06931259
chr11116858276116858355E06931406
chr11116858369116858611E06931499
chr11116858789116858914E06931919
chr11116859638116859748E06932768
chr11116859778116860194E06932908
chr11116860252116861570E06933382
chr11116861679116861775E06934809
chr11116861794116861844E06934924
chr11116863574116863629E06936704
chr11116864029116864183E06937159
chr11116864198116865285E06937328
chr11116865311116865512E06938441
chr11116866459116866576E06939589
chr11116867474116867524E06940604
chr11116867631116867706E06940761
chr11116867779116867854E06940909
chr11116867922116868096E06941052
chr11116870822116871164E06943952
chr11116871318116871623E06944448
chr11116871763116871917E06944893
chr11116872614116872737E06945744
chr11116873067116873135E06946197
chr11116873176116873348E06946306
chr11116873394116874183E06946524
chr11116875382116875495E06948512
chr11116875526116875566E06948656
chr11116875659116875709E06948789
chr11116876469116876778E06949599
chr11116831559116831606E0704689
chr11116831654116832008E0704784
chr11116860252116861570E07033382
chr11116777226116777479E071-49391
chr11116777674116777772E071-49098
chr11116780474116780530E071-46340
chr11116781223116781497E071-45373
chr11116781621116781707E071-45163
chr11116781782116781822E071-45048
chr11116782783116783074E071-43796
chr11116783146116783426E071-43444
chr11116783571116783669E071-43201
chr11116789407116789457E071-37413
chr11116789686116789746E071-37124
chr11116789813116789937E071-36933
chr11116789941116790077E071-36793
chr11116790118116790224E071-36646
chr11116790276116790385E071-36485
chr11116790685116790734E071-36136
chr11116790753116790845E071-36025
chr11116791089116791139E071-35731
chr11116791295116791415E071-35455
chr11116791429116791501E071-35369
chr11116791518116791601E071-35269
chr11116791627116791667E071-35203
chr11116791696116791782E071-35088
chr11116797696116798775E071-28095
chr11116798893116799535E071-27335
chr11116799551116799666E071-27204
chr11116799674116799862E071-27008
chr11116799892116800143E071-26727
chr11116800214116801730E071-25140
chr11116801793116803331E071-23539
chr11116816879116816935E071-9935
chr11116816949116817074E071-9796
chr11116817136116817495E071-9375
chr11116819758116819875E071-6995
chr11116819899116820185E071-6685
chr11116820574116820624E071-6246
chr11116820681116820793E071-6077
chr11116820900116820958E071-5912
chr11116820959116821052E071-5818
chr11116821251116821301E071-5569
chr11116821334116821585E071-5285
chr11116821679116821806E071-5064
chr11116823139116823201E071-3669
chr11116823329116823396E071-3474
chr11116823768116823857E071-3013
chr11116823943116824001E071-2869
chr11116824165116824205E071-2665
chr11116824303116824619E071-2251
chr11116826206116826328E071-542
chr11116826366116826656E071-214
chr11116826680116826999E0710
chr11116827072116827122E071202
chr11116827316116827356E071446
chr11116827499116827549E071629
chr11116827758116827808E071888
chr11116828008116828048E0711138
chr11116828163116828214E0711293
chr11116828302116828478E0711432
chr11116828907116828961E0712037
chr11116829096116829342E0712226
chr11116829404116829591E0712534
chr11116829598116829648E0712728
chr11116829677116829717E0712807
chr11116829811116829875E0712941
chr11116829982116830041E0713112
chr11116830078116830134E0713208
chr11116830224116830450E0713354
chr11116830981116831031E0714111
chr11116831144116831215E0714274
chr11116831326116831376E0714456
chr11116831559116831606E0714689
chr11116831654116832008E0714784
chr11116832072116832156E0715202
chr11116832189116832421E0715319
chr11116832424116832627E0715554
chr11116832707116833142E0715837
chr11116833336116833396E0716466
chr11116833783116833839E0716913
chr11116833915116834045E0717045
chr11116834954116835004E0718084
chr11116835139116835215E0718269
chr11116837980116838068E07111110
chr11116838338116838418E07111468
chr11116838429116838566E07111559
chr11116842903116842990E07116033
chr11116843082116843207E07116212
chr11116843272116843952E07116402
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