rs2830045

Homo sapiens
A>G
APP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0277 (8321/29942,GnomAD)
G=0234 (6837/29118,TOPMED)
G=0262 (1314/5008,1000G)
G=0358 (1381/3854,ALSPAC)
G=0358 (1326/3708,TWINSUK)
chr21:26086093 (GRCh38.p7) (21q21.3)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.26086093A>G
GRCh37.p13 chr 21NC_000021.8:g.27458409A>G
APP RefSeqGeneNG_007376.1:g.89724T>C

Gene: APP, amyloid beta precursor protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
APP transcript variant 1NM_000484.3:c.N/AIntron Variant
APP transcript variant 4NM_001136016.3:c.N/AIntron Variant
APP transcript variant 5NM_001136129.2:c.N/AIntron Variant
APP transcript variant 6NM_001136130.2:c.N/AIntron Variant
APP transcript variant 7NM_001136131.2:c.N/AIntron Variant
APP transcript variant 8NM_001204301.1:c.N/AIntron Variant
APP transcript variant 9NM_001204302.1:c.N/AIntron Variant
APP transcript variant 10NM_001204303.1:c.N/AIntron Variant
APP transcript variant 2NM_201413.2:c.N/AIntron Variant
APP transcript variant 3NM_201414.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.966G=0.034
1000GenomesAmericanSub694A=0.770G=0.230
1000GenomesEast AsianSub1008A=0.643G=0.357
1000GenomesEuropeSub1006A=0.636G=0.364
1000GenomesGlobalStudy-wide5008A=0.738G=0.262
1000GenomesSouth AsianSub978A=0.610G=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.642G=0.358
The Genome Aggregation DatabaseAfricanSub8726A=0.923G=0.077
The Genome Aggregation DatabaseAmericanSub836A=0.780G=0.220
The Genome Aggregation DatabaseEast AsianSub1614A=0.667G=0.333
The Genome Aggregation DatabaseEuropeSub18464A=0.633G=0.366
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.722G=0.277
The Genome Aggregation DatabaseOtherSub302A=0.480G=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.765G=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.642G=0.358
PMID Title Author Journal
17601350A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.Harris SEBMC Genet
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs28300456.31E-06alcohol dependence23691058

eQTL of rs2830045 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 rs2830045 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 )
chr212740862227408746E067-49663
chr212740886127408941E067-49468
chr212740927027409592E067-48817
chr212741143927411645E067-46764
chr212741197127412053E067-46356
chr212741345627414609E067-43800
chr212742812727428323E067-30086
chr212742977927430165E067-28244
chr212743016927430490E067-27919
chr212743056727430617E067-27792
chr212743309927433171E067-25238
chr212743318027433425E067-24984
chr212743998227440032E067-18377
chr212744003427440116E067-18293
chr212744030327440888E067-17521
chr212744092527441026E067-17383
chr212744111727441510E067-16899
chr212744152027442028E067-16381
chr212744214427442194E067-16215
chr212744221427442379E067-16030
chr212744273627443922E067-14487
chr212744401127444139E067-14270
chr212744422127444357E067-14052
chr212744516727445283E067-13126
chr212744529827445519E067-12890
chr212744552927445623E067-12786
chr212744563427445827E067-12582
chr212744603327446134E067-12275
chr212744674427446788E067-11621
chr212744683927446899E067-11510
chr212744704327447307E067-11102
chr212744954327449763E067-8646
chr212744984627450249E067-8160
chr212746371727463811E0675308
chr212746382527463915E0675416
chr212746400227464315E0675593
chr212747058127471829E06712172
chr212747201727472256E06713608
chr212747226227472420E06713853
chr212747267627472772E06714267
chr212747286527473161E06714456
chr212747876827479397E06720359
chr212747944927480484E06721040
chr212748429227484343E06725883
chr212748443627484480E06726027
chr212748486027484940E06726451
chr212748503227485158E06726623
chr212748549127485565E06727082
chr212748562127485661E06727212
chr212748575127485801E06727342
chr212748581527486016E06727406
chr212748624327486315E06727834
chr212748719627487257E06728787
chr212748766427487721E06729255
chr212748773927487984E06729330
chr212748820927488587E06729800
chr212748859027489298E06730181
chr212748950127489644E06731092
chr212748969727490020E06731288
chr212749005327490318E06731644
chr212749033827490547E06731929
chr212749092127491028E06732512
chr212749138327491604E06732974
chr212749161727491745E06733208
chr212749197127492057E06733562
chr212749233127492722E06733922
chr212749312227493528E06734713
chr212749367927493729E06735270
chr212749440827494772E06735999
chr212749537327495773E06736964
chr212749578527495889E06737376
chr212749597027496268E06737561
chr212749631527496416E06737906
chr212749661927497596E06738210
chr212749763827498126E06739229
chr212749817927498473E06739770
chr212749851127498940E06740102
chr212749904027499117E06740631
chr212749958327499753E06741174
chr212750095227501071E06742543
chr212750108827501495E06742679
chr212740862227408746E068-49663
chr212740886127408941E068-49468
chr212741143927411645E068-46764
chr212741345627414609E068-43800
chr212742674827427427E068-30982
chr212742750527427575E068-30834
chr212742789127428036E068-30373
chr212742812727428323E068-30086
chr212742977927430165E068-28244
chr212743016927430490E068-27919
chr212743056727430617E068-27792
chr212743162227431677E068-26732
chr212743172527431765E068-26644
chr212743226927432331E068-26078
chr212743252027432797E068-25612
chr212743309927433171E068-25238
chr212743318027433425E068-24984
chr212743619627436263E068-22146
chr212743918227439322E068-19087
chr212743998227440032E068-18377
chr212744003427440116E068-18293
chr212744030327440888E068-17521
chr212744092527441026E068-17383
chr212744111727441510E068-16899
chr212744152027442028E068-16381
chr212744214427442194E068-16215
chr212744221427442379E068-16030
chr212744238527442563E068-15846
chr212744273627443922E068-14487
chr212744401127444139E068-14270
chr212744422127444357E068-14052
chr212744516727445283E068-13126
chr212744529827445519E068-12890
chr212744552927445623E068-12786
chr212744563427445827E068-12582
chr212744603327446134E068-12275
chr212744674427446788E068-11621
chr212744683927446899E068-11510
chr212744704327447307E068-11102
chr212744760227447652E068-10757
chr212744984627450249E068-8160
chr212745752227457741E068-668
chr212745776727457807E068-602
chr212745790527457959E068-450
chr212745799927458097E068-312
chr212746156827461627E0683159
chr212746211427462171E0683705
chr212746231727462401E0683908
chr212746334827463665E0684939
chr212746371727463811E0685308
chr212746382527463915E0685416
chr212746400227464315E0685593
chr212746847927468532E06810070
chr212746922227469512E06810813
chr212747058127471829E06812172
chr212747201727472256E06813608
chr212747226227472420E06813853
chr212747267627472772E06814267
chr212747286527473161E06814456
chr212747324827473335E06814839
chr212747604427476100E06817635
chr212747612727476365E06817718
chr212747944927480484E06821040
chr212748503227485158E06826623
chr212748549127485565E06827082
chr212748562127485661E06827212
chr212748575127485801E06827342
chr212748581527486016E06827406
chr212748677627486962E06828367
chr212748719627487257E06828787
chr212748766427487721E06829255
chr212748773927487984E06829330
chr212748950127489644E06831092
chr212748969727490020E06831288
chr212749005327490318E06831644
chr212749033827490547E06831929
chr212749092127491028E06832512
chr212749138327491604E06832974
chr212749161727491745E06833208
chr212749197127492057E06833562
chr212749233127492722E06833922
chr212749440827494772E06835999
chr212749478827495102E06836379
chr212749520927495290E06836800
chr212749537327495773E06836964
chr212749578527495889E06837376
chr212749597027496268E06837561
chr212749631527496416E06837906
chr212749661927497596E06838210
chr212749763827498126E06839229
chr212749817927498473E06839770
chr212749851127498940E06840102
chr212749904027499117E06840631
chr212750002727500115E06841618
chr212750019627500737E06841787
chr212750095227501071E06842543
chr212750108827501495E06842679
chr212750186927501926E06843460
chr212750193527501989E06843526
chr212750635327506403E06847944
chr212750647127506613E06848062
chr212750682827506880E06848419
chr212750688627506995E06848477
chr212750703827507260E06848629
chr212750742127507673E06849012
chr212740862227408746E069-49663
chr212740886127408941E069-49468
chr212740927027409592E069-48817
chr212741143927411645E069-46764
chr212741197127412053E069-46356
chr212741345627414609E069-43800
chr212742750527427575E069-30834
chr212742789127428036E069-30373
chr212742812727428323E069-30086
chr212742862827428678E069-29731
chr212742977927430165E069-28244
chr212743016927430490E069-27919
chr212743056727430617E069-27792
chr212743252027432797E069-25612
chr212743309927433171E069-25238
chr212743318027433425E069-24984
chr212743347527433591E069-24818
chr212743619627436263E069-22146
chr212743686827437150E069-21259
chr212743998227440032E069-18377
chr212744003427440116E069-18293
chr212744030327440888E069-17521
chr212744092527441026E069-17383
chr212744111727441510E069-16899
chr212744152027442028E069-16381
chr212744214427442194E069-16215
chr212744221427442379E069-16030
chr212744238527442563E069-15846
chr212744273627443922E069-14487
chr212744401127444139E069-14270
chr212744422127444357E069-14052
chr212744516727445283E069-13126
chr212744529827445519E069-12890
chr212744552927445623E069-12786
chr212744563427445827E069-12582
chr212744954327449763E069-8646
chr212744984627450249E069-8160
chr212745026127450372E069-8037
chr212745037627450426E069-7983
chr212746156827461627E0693159
chr212746211427462171E0693705
chr212746231727462401E0693908
chr212746847927468532E06910070
chr212746866927468769E06910260
chr212746880227468935E06910393
chr212746893727468987E06910528
chr212746922227469512E06910813
chr212746953327469832E06911124
chr212747058127471829E06912172
chr212747201727472256E06913608
chr212747226227472420E06913853
chr212747267627472772E06914267
chr212747286527473161E06914456
chr212747324827473335E06914839
chr212747380827473927E06915399
chr212747820927478455E06919800
chr212747846427478543E06920055
chr212747868927478739E06920280
chr212747876827479397E06920359
chr212747944927480484E06921040
chr212748429227484343E06925883
chr212748443627484480E06926027
chr212748486027484940E06926451
chr212748503227485158E06926623
chr212748549127485565E06927082
chr212748562127485661E06927212
chr212748624327486315E06927834
chr212748640027486684E06927991
chr212748677627486962E06928367
chr212748719627487257E06928787
chr212748766427487721E06929255
chr212748773927487984E06929330
chr212748820927488587E06929800
chr212748950127489644E06931092
chr212748969727490020E06931288
chr212749005327490318E06931644
chr212749033827490547E06931929
chr212749197127492057E06933562
chr212749233127492722E06933922
chr212749312227493528E06934713
chr212749661927497596E06938210
chr212749763827498126E06939229
chr212749817927498473E06939770
chr212749851127498940E06940102
chr212749904027499117E06940631
chr212750002727500115E06941618
chr212750019627500737E06941787
chr212750240727502494E06943998
chr212750264627503219E06944237
chr212750647127506613E06948062
chr212750682827506880E06948419
chr212750688627506995E06948477
chr212750703827507260E06948629
chr212750742127507673E06949012
chr212750773427507804E06949325
chr212750785227507902E06949443
chr212750793227508161E06949523
chr212741345627414609E070-43800
chr212744092527441026E070-17383
chr212744552927445623E070-12786
chr212744563427445827E070-12582
chr212748766427487721E07029255
chr212748773927487984E07029330
chr212748820927488587E07029800
chr212748859027489298E07030181
chr212748950127489644E07031092
chr212748969727490020E07031288
chr212749005327490318E07031644
chr212749033827490547E07031929
chr212740862227408746E071-49663
chr212740886127408941E071-49468
chr212741143927411645E071-46764
chr212741345627414609E071-43800
chr212742674827427427E071-30982
chr212742750527427575E071-30834
chr212742789127428036E071-30373
chr212742812727428323E071-30086
chr212742862827428678E071-29731
chr212742909927429149E071-29260
chr212742935627429428E071-28981
chr212742962427429674E071-28735
chr212742977927430165E071-28244
chr212743016927430490E071-27919
chr212743056727430617E071-27792
chr212743252027432797E071-25612
chr212743309927433171E071-25238
chr212743318027433425E071-24984
chr212743347527433591E071-24818
chr212743364727434252E071-24157
chr212743619627436263E071-22146
chr212743998227440032E071-18377
chr212744003427440116E071-18293
chr212744030327440888E071-17521
chr212744092527441026E071-17383
chr212744111727441510E071-16899
chr212744152027442028E071-16381
chr212744214427442194E071-16215
chr212744221427442379E071-16030
chr212744238527442563E071-15846
chr212744273627443922E071-14487
chr212744401127444139E071-14270
chr212744422127444357E071-14052
chr212744516727445283E071-13126
chr212744529827445519E071-12890
chr212744552927445623E071-12786
chr212744563427445827E071-12582
chr212744603327446134E071-12275
chr212744674427446788E071-11621
chr212744683927446899E071-11510
chr212744704327447307E071-11102
chr212744760227447652E071-10757
chr212744954327449763E071-8646
chr212744984627450249E071-8160
chr212745539027455440E071-2969
chr212745578427455877E071-2532
chr212745600027456050E071-2359
chr212745613327456280E071-2129
chr212746334827463665E0714939
chr212746371727463811E0715308
chr212746382527463915E0715416
chr212746400227464315E0715593
chr212746495427465004E0716545
chr212746757927467708E0719170
chr212746830727468357E0719898
chr212746847927468532E07110070
chr212746866927468769E07110260
chr212746880227468935E07110393
chr212746893727468987E07110528
chr212746922227469512E07110813
chr212747058127471829E07112172
chr212747201727472256E07113608
chr212747226227472420E07113853
chr212747267627472772E07114267
chr212747286527473161E07114456
chr212747810027478199E07119691
chr212747820927478455E07119800
chr212747846427478543E07120055
chr212747868927478739E07120280
chr212747876827479397E07120359
chr212747944927480484E07121040
chr212748429227484343E07125883
chr212748443627484480E07126027
chr212748486027484940E07126451
chr212748503227485158E07126623
chr212748549127485565E07127082
chr212748562127485661E07127212
chr212748575127485801E07127342
chr212748581527486016E07127406
chr212748624327486315E07127834
chr212748640027486684E07127991
chr212748677627486962E07128367
chr212748719627487257E07128787
chr212748766427487721E07129255
chr212748773927487984E07129330
chr212748820927488587E07129800
chr212748950127489644E07131092
chr212748969727490020E07131288
chr212749005327490318E07131644
chr212749033827490547E07131929
chr212749138327491604E07132974
chr212749161727491745E07133208
chr212749197127492057E07133562
chr212749233127492722E07133922
chr212749312227493528E07134713
chr212749578527495889E07137376
chr212749597027496268E07137561
chr212749631527496416E07137906
chr212749661927497596E07138210
chr212749763827498126E07139229
chr212749817927498473E07139770
chr212749851127498940E07140102
chr212750019627500737E07141787
chr212750095227501071E07142543
chr212750108827501495E07142679
chr212750186927501926E07143460
chr212750193527501989E07143526
chr212750240727502494E07143998
chr212750264627503219E07144237
chr212750494927505055E07146540
chr212750509927505149E07146690
chr212750522227505266E07146813
chr212750530027505350E07146891
chr212750647127506613E07148062
chr212750682827506880E07148419
chr212750688627506995E07148477
chr212741143927411645E072-46764
chr212741345627414609E072-43800
chr212741475427414839E072-43570
chr212742165627421706E072-36703
chr212742403727424081E072-34328
chr212742458027424663E072-33746
chr212742570527425833E072-32576
chr212742674827427427E072-30982
chr212742750527427575E072-30834
chr212742789127428036E072-30373
chr212742812727428323E072-30086
chr212742862827428678E072-29731
chr212742909927429149E072-29260
chr212742935627429428E072-28981
chr212742962427429674E072-28735
chr212742977927430165E072-28244
chr212743016927430490E072-27919
chr212743056727430617E072-27792
chr212743183827431919E072-26490
chr212743226927432331E072-26078
chr212743252027432797E072-25612
chr212743309927433171E072-25238
chr212743318027433425E072-24984
chr212743347527433591E072-24818
chr212743364727434252E072-24157
chr212743781627437996E072-20413
chr212743810227438184E072-20225
chr212743998227440032E072-18377
chr212744003427440116E072-18293
chr212744030327440888E072-17521
chr212744092527441026E072-17383
chr212744111727441510E072-16899
chr212744152027442028E072-16381
chr212744273627443922E072-14487
chr212744401127444139E072-14270
chr212744422127444357E072-14052
chr212744516727445283E072-13126
chr212744529827445519E072-12890
chr212744552927445623E072-12786
chr212744563427445827E072-12582
chr212744954327449763E072-8646
chr212744984627450249E072-8160
chr212745142827451619E072-6790
chr212745164827451979E072-6430
chr212745600027456050E072-2359
chr212745613327456280E072-2129
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