rs2053568

Homo sapiens
T>C
SEC14L1 : Intron Variant
LOC105371900 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0184 (5528/29948,GnomAD)
C=0238 (6935/29118,TOPMED)
C=0220 (1103/5008,1000G)
C=0101 (391/3854,ALSPAC)
C=0098 (363/3708,TWINSUK)
chr17:77113218 (GRCh38.p7) (17q25.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.77113218T>C
GRCh37.p13 chr 17NC_000017.10:g.75109300T>C

Gene: SEC14L1, SEC14 like lipid binding 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SEC14L1 transcript variant 6NM_001204408.1:c.N/AIntron Variant
SEC14L1 transcript variant 7NM_001204410.1:c.N/AIntron Variant
SEC14L1 transcript variant 2NM_001039573.2:c.N/AGenic Upstream Transcript Variant
SEC14L1 transcript variant 3NM_001143998.1:c.N/AGenic Upstream Transcript Variant
SEC14L1 transcript variant 4NM_001143999.1:c.N/AGenic Upstream Transcript Variant
SEC14L1 transcript variant 5NM_001144001.1:c.N/AGenic Upstream Transcript Variant
SEC14L1 transcript variant 1NM_003003.3:c.N/AGenic Upstream Transcript Variant

Gene: LOC105371900, uncharacterized LOC105371900(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371900 transcriptXR_001753023.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.539C=0.461
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.879C=0.121
1000GenomesEuropeSub1006T=0.887C=0.113
1000GenomesGlobalStudy-wide5008T=0.780C=0.220
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.899C=0.101
The Genome Aggregation DatabaseAfricanSub8694T=0.606C=0.394
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1622T=0.932C=0.068
The Genome Aggregation DatabaseEuropeSub18492T=0.902C=0.098
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.815C=0.184
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.761C=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.902C=0.098
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
rs20535680.000317alcohol dependence21314694

eQTL of rs2053568 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 rs2053568 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 )
chr177508208275083099E067-26201
chr177508602975086093E067-23207
chr177508619775086260E067-23040
chr177509238275092422E067-16878
chr177509249575093378E067-15922
chr177509373775094210E067-15090
chr177509450875095501E067-13799
chr177509551575095582E067-13718
chr177509563675095737E067-13563
chr177509579275095928E067-13372
chr177509611675096451E067-12849
chr177510548975105736E067-3564
chr177510579475106451E067-2849
chr177510646475106622E067-2678
chr177511694275117398E0677642
chr177511777075118375E0678470
chr177512263475123009E06713334
chr177512372675124454E06714426
chr177512456175124611E06715261
chr177512483475126347E06715534
chr177512654375126606E06717243
chr177512670775126915E06717407
chr177512704275127306E06717742
chr177513985175140059E06730551
chr177514013775140248E06730837
chr177514039775140603E06731097
chr177514138275142324E06732082
chr177514234475142575E06733044
chr177514420075144703E06734900
chr177514473875145576E06735438
chr177514585675145906E06736556
chr177514609575146457E06736795
chr177514655675146769E06737256
chr177514679775146847E06737497
chr177514715375147203E06737853
chr177514724675147316E06737946
chr177514732675147616E06738026
chr177514768175147806E06738381
chr177514881275148862E06739512
chr177514886775148933E06739567
chr177514894875149062E06739648
chr177514924075149303E06739940
chr177514942275149542E06740122
chr177514961775149874E06740317
chr177515004275150125E06740742
chr177515030175150351E06741001
chr177515043175150563E06741131
chr177515079275150853E06741492
chr177515117375151283E06741873
chr177515133975151424E06742039
chr177515144075151490E06742140
chr177515152475151793E06742224
chr177515190675152062E06742606
chr177515216475152214E06742864
chr177515222375152358E06742923
chr177515610875156989E06746808
chr177515699075157153E06747690
chr177508208275083099E068-26201
chr177508643175086517E068-22783
chr177508662975086888E068-22412
chr177509249575093378E068-15922
chr177509373775094210E068-15090
chr177509450875095501E068-13799
chr177509551575095582E068-13718
chr177509563675095737E068-13563
chr177509579275095928E068-13372
chr177509611675096451E068-12849
chr177510548975105736E068-3564
chr177510579475106451E068-2849
chr177510806675108280E068-1020
chr177511110575111178E0681805
chr177511140275111446E0682102
chr177511154375111959E0682243
chr177511204275112102E0682742
chr177511223975112319E0682939
chr177511242875112925E0683128
chr177511346375113519E0684163
chr177511364475113773E0684344
chr177511395375114068E0684653
chr177511411375115092E0684813
chr177511694275117398E0687642
chr177512026575120960E06810965
chr177512149175121911E06812191
chr177512226975122319E06812969
chr177512234875122630E06813048
chr177512263475123009E06813334
chr177512372675124454E06814426
chr177512456175124611E06815261
chr177512483475126347E06815534
chr177512654375126606E06817243
chr177514390075143988E06834600
chr177514420075144703E06834900
chr177514585675145906E06836556
chr177514609575146457E06836795
chr177514655675146769E06837256
chr177514679775146847E06837497
chr177514732675147616E06838026
chr177514768175147806E06838381
chr177514780875147858E06838508
chr177514816075148361E06838860
chr177514881275148862E06839512
chr177514886775148933E06839567
chr177514894875149062E06839648
chr177514924075149303E06839940
chr177514942275149542E06840122
chr177514961775149874E06840317
chr177515004275150125E06840742
chr177515030175150351E06841001
chr177515043175150563E06841131
chr177515079275150853E06841492
chr177515117375151283E06841873
chr177515133975151424E06842039
chr177515144075151490E06842140
chr177515152475151793E06842224
chr177515190675152062E06842606
chr177515216475152214E06842864
chr177515222375152358E06842923
chr177515407175154144E06844771
chr177515610875156989E06846808
chr177515699075157153E06847690
chr177515727175157351E06847971
chr177515742575157538E06848125
chr177515760975158021E06848309
chr177515802675158134E06848726
chr177515828675158411E06848986
chr177515860175158655E06849301
chr177508208275083099E069-26201
chr177508386775084039E069-25261
chr177508602975086093E069-23207
chr177508619775086260E069-23040
chr177508643175086517E069-22783
chr177508662975086888E069-22412
chr177508693875087027E069-22273
chr177508750675087713E069-21587
chr177508806675088126E069-21174
chr177508826475088318E069-20982
chr177508833775088404E069-20896
chr177509249575093378E069-15922
chr177509373775094210E069-15090
chr177509450875095501E069-13799
chr177509551575095582E069-13718
chr177509563675095737E069-13563
chr177509579275095928E069-13372
chr177509611675096451E069-12849
chr177510356675103979E069-5321
chr177510416375104443E069-4857
chr177510527575105377E069-3923
chr177510548975105736E069-3564
chr177510579475106451E069-2849
chr177510646475106622E069-2678
chr177511110575111178E0691805
chr177511140275111446E0692102
chr177511154375111959E0692243
chr177511204275112102E0692742
chr177511223975112319E0692939
chr177511242875112925E0693128
chr177511346375113519E0694163
chr177511364475113773E0694344
chr177511395375114068E0694653
chr177511694275117398E0697642
chr177511777075118375E0698470
chr177512026575120960E06910965
chr177512263475123009E06913334
chr177512483475126347E06915534
chr177514234475142575E06933044
chr177514302075143366E06933720
chr177514339775143873E06934097
chr177514390075143988E06934600
chr177514420075144703E06934900
chr177514473875145576E06935438
chr177514585675145906E06936556
chr177514609575146457E06936795
chr177514655675146769E06937256
chr177514679775146847E06937497
chr177514715375147203E06937853
chr177514732675147616E06938026
chr177514768175147806E06938381
chr177514780875147858E06938508
chr177514881275148862E06939512
chr177514886775148933E06939567
chr177514894875149062E06939648
chr177514924075149303E06939940
chr177514942275149542E06940122
chr177514961775149874E06940317
chr177515004275150125E06940742
chr177515030175150351E06941001
chr177515043175150563E06941131
chr177515079275150853E06941492
chr177515117375151283E06941873
chr177515133975151424E06942039
chr177515144075151490E06942140
chr177515152475151793E06942224
chr177515190675152062E06942606
chr177515216475152214E06942864
chr177515222375152358E06942923
chr177515610875156989E06946808
chr177515699075157153E06947690
chr177515727175157351E06947971
chr177515742575157538E06948125
chr177515802675158134E06948726
chr177515828675158411E06948986
chr177515860175158655E06949301
chr177506713275067195E070-42105
chr177508602975086093E070-23207
chr177508619775086260E070-23040
chr177511411375115092E0704813
chr177512483475126347E07015534
chr177513900175139101E07029701
chr177513917175139261E07029871
chr177513929675139382E07029996
chr177514609575146457E07036795
chr177514655675146769E07037256
chr177514679775146847E07037497
chr177514715375147203E07037853
chr177514724675147316E07037946
chr177514732675147616E07038026
chr177514768175147806E07038381
chr177514780875147858E07038508
chr177514816075148361E07038860
chr177514881275148862E07039512
chr177514886775148933E07039567
chr177514894875149062E07039648
chr177514924075149303E07039940
chr177514942275149542E07040122
chr177514961775149874E07040317
chr177515610875156989E07046808
chr177515699075157153E07047690
chr177515727175157351E07047971
chr177515742575157538E07048125
chr177515760975158021E07048309
chr177508316275083226E071-26074
chr177508323275083314E071-25986
chr177508368775083810E071-25490
chr177508619775086260E071-23040
chr177508643175086517E071-22783
chr177508662975086888E071-22412
chr177508693875087027E071-22273
chr177508750675087713E071-21587
chr177509238275092422E071-16878
chr177509249575093378E071-15922
chr177509373775094210E071-15090
chr177509563675095737E071-13563
chr177509579275095928E071-13372
chr177509611675096451E071-12849
chr177510527575105377E071-3923
chr177511110575111178E0711805
chr177511140275111446E0712102
chr177511154375111959E0712243
chr177511204275112102E0712742
chr177511223975112319E0712939
chr177511242875112925E0713128
chr177511346375113519E0714163
chr177511364475113773E0714344
chr177511395375114068E0714653
chr177511411375115092E0714813
chr177511522575115305E0715925
chr177511544075115611E0716140
chr177512226975122319E07112969
chr177512234875122630E07113048
chr177512263475123009E07113334
chr177512332275123364E07114022
chr177512372675124454E07114426
chr177512456175124611E07115261
chr177512483475126347E07115534
chr177512654375126606E07117243
chr177512670775126915E07117407
chr177512704275127306E07117742
chr177514039775140603E07131097
chr177514273275143017E07133432
chr177514339775143873E07134097
chr177514390075143988E07134600
chr177514585675145906E07136556
chr177514609575146457E07136795
chr177514655675146769E07137256
chr177514679775146847E07137497
chr177514715375147203E07137853
chr177514724675147316E07137946
chr177514732675147616E07138026
chr177514768175147806E07138381
chr177514780875147858E07138508
chr177514816075148361E07138860
chr177514881275148862E07139512
chr177514886775148933E07139567
chr177514894875149062E07139648
chr177514924075149303E07139940
chr177514942275149542E07140122
chr177514961775149874E07140317
chr177515004275150125E07140742
chr177515030175150351E07141001
chr177515043175150563E07141131
chr177515079275150853E07141492
chr177515117375151283E07141873
chr177515133975151424E07142039
chr177515144075151490E07142140
chr177515152475151793E07142224
chr177515610875156989E07146808
chr177515699075157153E07147690
chr177515727175157351E07147971
chr177515742575157538E07148125
chr177515760975158021E07148309
chr177515802675158134E07148726
chr177515828675158411E07148986
chr177515860175158655E07149301
chr177508208275083099E072-26201
chr177508386775084039E072-25261
chr177508602975086093E072-23207
chr177508619775086260E072-23040
chr177508643175086517E072-22783
chr177508826475088318E072-20982
chr177508833775088404E072-20896
chr177508848675088581E072-20719
chr177509373775094210E072-15090
chr177509450875095501E072-13799
chr177509551575095582E072-13718
chr177509563675095737E072-13563
chr177509579275095928E072-13372
chr177509611675096451E072-12849
chr177510548975105736E072-3564
chr177510579475106451E072-2849
chr177510646475106622E072-2678
chr177511154375111959E0722243
chr177511204275112102E0722742
chr177511223975112319E0722939
chr177511242875112925E0723128
chr177511395375114068E0724653
chr177511694275117398E0727642
chr177511777075118375E0728470
chr177512234875122630E07213048
chr177512263475123009E07213334
chr177512372675124454E07214426
chr177512456175124611E07215261
chr177512483475126347E07215534
chr177512654375126606E07217243
chr177512670775126915E07217407
chr177514273275143017E07233432
chr177514302075143366E07233720
chr177514339775143873E07234097
chr177514390075143988E07234600
chr177514420075144703E07234900
chr177514473875145576E07235438
chr177514585675145906E07236556
chr177514609575146457E07236795
chr177514655675146769E07237256
chr177514679775146847E07237497
chr177514715375147203E07237853
chr177514724675147316E07237946
chr177514732675147616E07238026
chr177514768175147806E07238381
chr177514780875147858E07238508
chr177514881275148862E07239512
chr177514886775148933E07239567
chr177514894875149062E07239648
chr177514961775149874E07240317
chr177515004275150125E07240742
chr177515030175150351E07241001
chr177515043175150563E07241131
chr177515079275150853E07241492
chr177515117375151283E07241873
chr177515133975151424E07242039
chr177515144075151490E07242140
chr177515152475151793E07242224
chr177515610875156989E07246808
chr177515699075157153E07247690
chr177515727175157351E07247971
chr177508368775083810E073-25490
chr177508386775084039E073-25261
chr177508643175086517E073-22783
chr177508662975086888E073-22412
chr177508693875087027E073-22273
chr177508750675087713E073-21587
chr177508806675088126E073-21174
chr177508826475088318E073-20982
chr177508833775088404E073-20896
chr177508848675088581E073-20719
chr177509238275092422E073-16878
chr177509249575093378E073-15922
chr177509373775094210E073-15090
chr177509450875095501E073-13799
chr177509551575095582E073-13718
chr177509563675095737E073-13563
chr177509579275095928E073-13372
chr177509611675096451E073-12849
chr177510527575105377E073-3923
chr177510548975105736E073-3564
chr177510579475106451E073-2849
chr177510646475106622E073-2678
chr177510767275107876E073-1424
chr177510791175108041E073-1259
chr177510806675108280E073-1020
chr177511140275111446E0732102
chr177511154375111959E0732243
chr177511204275112102E0732742
chr177511223975112319E0732939
chr177511242875112925E0733128
chr177511346375113519E0734163
chr177511364475113773E0734344
chr177511395375114068E0734653
chr177511411375115092E0734813
chr177511694275117398E0737642
chr177511777075118375E0738470
chr177512234875122630E07313048
chr177512263475123009E07313334
chr177512372675124454E07314426
chr177512456175124611E07315261
chr177512483475126347E07315534
chr177512654375126606E07317243
chr177512670775126915E07317407
chr177514339775143873E07334097
chr177514390075143988E07334600
chr177514420075144703E07334900
chr177514473875145576E07335438
chr177514609575146457E07336795
chr177514655675146769E07337256
chr177514679775146847E07337497
chr177514715375147203E07337853
chr177514724675147316E07337946
chr177514732675147616E07338026
chr177514768175147806E07338381
chr177514780875147858E07338508
chr177514881275148862E07339512
chr177514886775148933E07339567
chr177514894875149062E07339648
chr177514924075149303E07339940
chr177514942275149542E07340122
chr177514961775149874E07340317
chr177515004275150125E07340742
chr177515030175150351E07341001
chr177515043175150563E07341131
chr177515079275150853E07341492
chr177515117375151283E07341873
chr177515133975151424E07342039
chr177515144075151490E07342140
chr177515152475151793E07342224
chr177515190675152062E07342606
chr177515216475152214E07342864
chr177515610875156989E07346808
chr177515699075157153E07347690
chr177515727175157351E07347971
chr177515742575157538E07348125
chr177515760975158021E07348309
chr177515802675158134E07348726
chr177515828675158411E07348986
chr177515860175158655E07349301
chr177508602975086093E074-23207
chr177508619775086260E074-23040
chr177509249575093378E074-15922
chr177509373775094210E074-15090
chr177509450875095501E074-13799
chr177509551575095582E074-13718
chr177509563675095737E074-13563
chr177509579275095928E074-13372
chr177509611675096451E074-12849
chr177510527575105377E074-3923
chr177510548975105736E074-3564
chr177510579475106451E074-2849
chr177510646475106622E074-2678
chr177511223975112319E0742939
chr177511242875112925E0743128
chr177511346375113519E0744163
chr177511364475113773E0744344
chr177511395375114068E0744653
chr177512263475123009E07413334
chr177512483475126347E07415534
chr177513985175140059E07430551
chr177514013775140248E07430837
chr177514039775140603E07431097
chr177514273275143017E07433432
chr177514302075143366E07433720
chr177514339775143873E07434097
chr177514390075143988E07434600
chr177514420075144703E07434900
chr177514473875145576E07435438
chr177514585675145906E07436556
chr177514609575146457E07436795
chr177514655675146769E07437256
chr177514679775146847E07437497
chr177514715375147203E07437853
chr177514768175147806E07438381
chr177514881275148862E07439512
chr177514886775148933E07439567
chr177514894875149062E07439648
chr177514942275149542E07440122
chr177514961775149874E07440317
chr177515004275150125E07440742
chr177515030175150351E07441001
chr177515043175150563E07441131
chr177515079275150853E07441492
chr177515117375151283E07441873
chr177515133975151424E07442039
chr177515144075151490E07442140
chr177515152475151793E07442224
chr177515190675152062E07442606
chr177515216475152214E07442864
chr177515222375152358E07442923
chr177515259575152635E07443295
chr177515288675152956E07443586
chr177515610875156989E07446808
chr177515699075157153E07447690
chr177515727175157351E07447971
chr177515742575157538E07448125
chr177515760975158021E07448309
chr177515802675158134E07448726
chr177515828675158411E07448986
chr177515860175158655E07449301
chr177506713275067195E081-42105
chr177506770875067758E081-41542
chr177506958675069721E081-39579
chr177506978575069838E081-39462
chr177507226075073165E081-36135
chr177507327475073324E081-35976
chr177508602975086093E081-23207
chr177508619775086260E081-23040
chr177513917175139261E08129871
chr177513929675139382E08129996
chr177513939675139471E08130096
chr177513956575139703E08130265
chr177513985175140059E08130551
chr177514138275142324E08132082
chr177514234475142575E08133044
chr177514273275143017E08133432
chr177514420075144703E08134900
chr177514473875145576E08135438
chr177514679775146847E08137497
chr177514715375147203E08137853
chr177514724675147316E08137946
chr177514732675147616E08138026
chr177514768175147806E08138381
chr177514780875147858E08138508
chr177514816075148361E08138860
chr177515610875156989E08146808
chr177515699075157153E08147690
chr177515727175157351E08147971
chr177515742575157538E08148125
chr177515760975158021E08148309
chr177515802675158134E08148726
chr177515828675158411E08148986
chr177506713275067195E082-42105
chr177508602975086093E082-23207
chr177508619775086260E082-23040
chr177508643175086517E082-22783
chr177508662975086888E082-22412
chr177508693875087027E082-22273
chr177508750675087713E082-21587
chr177513956575139703E08230265
chr177513985175140059E08230551
chr177514013775140248E08230837
chr177514039775140603E08231097
chr177514101575141148E08231715
chr177514138275142324E08232082
chr177514234475142575E08233044
chr177514473875145576E08235438
chr177514609575146457E08236795
chr177514655675146769E08237256
chr177514715375147203E08237853
chr177514724675147316E08237946
chr177514732675147616E08238026
chr177514768175147806E08238381
chr177514924075149303E08239940
chr177514942275149542E08240122
chr177514961775149874E08240317
chr177515610875156989E08246808
chr177515699075157153E08247690
chr177515727175157351E08247971










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177508409975085825E067-23475
chr177513582375138449E06726523
chr177513870875138785E06729408
chr177513879175138950E06729491
chr177508409975085825E068-23475
chr177513582375138449E06826523
chr177513870875138785E06829408
chr177513879175138950E06829491
chr177508409975085825E069-23475
chr177513582375138449E06926523
chr177513870875138785E06929408
chr177508409975085825E070-23475
chr177513582375138449E07026523
chr177508409975085825E071-23475
chr177513582375138449E07126523
chr177513870875138785E07129408
chr177513879175138950E07129491
chr177508409975085825E072-23475
chr177513582375138449E07226523
chr177513870875138785E07229408
chr177513879175138950E07229491
chr177508409975085825E073-23475
chr177513582375138449E07326523
chr177513870875138785E07329408
chr177513879175138950E07329491
chr177508409975085825E074-23475
chr177513582375138449E07426523
chr177513879175138950E07429491
chr177508409975085825E081-23475
chr177508409975085825E082-23475
chr177513582375138449E08226523
chr177513870875138785E08229408
chr177513879175138950E08229491