rs3788164

Homo sapiens
T>C
ADARB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0103 (3095/29922,GnomAD)
C=0090 (2619/29116,TOPMED)
C=0116 (582/5008,1000G)
C=0098 (377/3854,ALSPAC)
C=0098 (363/3708,TWINSUK)
chr21:45136301 (GRCh38.p7) (21q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
201 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.45136301T>C
GRCh37.p13 chr 21NC_000021.8:g.46556216T>C

Gene: ADARB1, adenosine deaminase, RNA specific B1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADARB1 transcript variant 1NM_001112.3:c.N/AIntron Variant
ADARB1 transcript variant 7NM_001160230.1:c.N/AIntron Variant
ADARB1 transcript variant 2NM_015833.3:c.N/AIntron Variant
ADARB1 transcript variant 3NM_015834.3:c.N/AIntron Variant
ADARB1 transcript variant 5NR_027672.1:n.N/AIntron Variant
ADARB1 transcript variant 4NR_027673.1:n.N/AIntron Variant
ADARB1 transcript variant 6NR_027674.1:n.N/AIntron Variant
ADARB1 transcript variant 8NR_073200.1:n.N/AIntron Variant
ADARB1 transcript variant X6XM_006723954.2:c.N/AIntron Variant
ADARB1 transcript variant X4XM_011529425.2:c.N/AIntron Variant
ADARB1 transcript variant X22XM_011529432.1:c.N/AIntron Variant
ADARB1 transcript variant X5XM_017028243.1:c.N/AIntron Variant
ADARB1 transcript variant X9XM_017028246.1:c.N/AIntron Variant
ADARB1 transcript variant X10XM_017028247.1:c.N/AIntron Variant
ADARB1 transcript variant X11XM_017028248.1:c.N/AIntron Variant
ADARB1 transcript variant X12XM_017028249.1:c.N/AIntron Variant
ADARB1 transcript variant X13XM_017028250.1:c.N/AIntron Variant
ADARB1 transcript variant X14XM_017028251.1:c.N/AIntron Variant
ADARB1 transcript variant X16XM_017028254.1:c.N/AIntron Variant
ADARB1 transcript variant X17XM_017028255.1:c.N/AIntron Variant
ADARB1 transcript variant X22XM_017028256.1:c.N/AIntron Variant
ADARB1 transcript variant X1XM_017028242.1:c.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X7XM_017028244.1:c.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X8XM_017028245.1:c.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X15XM_017028252.1:c.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X16XM_017028253.1:c.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X19XR_001754790.1:n.N/AIntron Variant
ADARB1 transcript variant X2XR_001754786.1:n.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X3XR_001754787.1:n.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X20XR_001754791.1:n.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X21XR_001754792.1:n.N/AGenic Upstream Transcript Variant
ADARB1 transcript variant X23XR_001754793.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.930C=0.070
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.820C=0.180
1000GenomesEuropeSub1006T=0.893C=0.107
1000GenomesGlobalStudy-wide5008T=0.884C=0.116
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.902C=0.098
The Genome Aggregation DatabaseAfricanSub8708T=0.929C=0.071
The Genome Aggregation DatabaseAmericanSub838T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1620T=0.827C=0.173
The Genome Aggregation DatabaseEuropeSub18454T=0.891C=0.108
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.896C=0.103
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.910C=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.902C=0.098
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs37881640.000713alcohol consumption (maxi-drinks)24277619

eQTL of rs3788164 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 rs3788164 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 )
chr214652234846522818E067-33398
chr214652284046523022E067-33194
chr214652562346525753E067-30463
chr214653151546531584E067-24632
chr214653160346531865E067-24351
chr214653193346532076E067-24140
chr214654903246550912E067-5304
chr214655097646551039E067-5177
chr214655110346551158E067-5058
chr214655122646551339E067-4877
chr214655140746551493E067-4723
chr214655151546551785E067-4431
chr214656232446563010E0676108
chr214658323946583337E06727023
chr214658338546584439E06727169
chr214651295046513047E068-43169
chr214651306546513176E068-43040
chr214651318646513513E068-42703
chr214652234846522818E068-33398
chr214652284046523022E068-33194
chr214652356346523679E068-32537
chr214652383946524870E068-31346
chr214652562346525753E068-30463
chr214652592846526013E068-30203
chr214652605446526431E068-29785
chr214652886646528946E068-27270
chr214652903246530450E068-25766
chr214654837346548905E068-7311
chr214655097646551039E068-5177
chr214655110346551158E068-5058
chr214655251846552598E068-3618
chr214655275946552828E068-3388
chr214655284946553154E068-3062
chr214655331546553458E068-2758
chr214655350046553668E068-2548
chr214656232446563010E0686108
chr214658323946583337E06827023
chr214658338546584439E06827169
chr214658887146589305E06832655
chr214658944346589520E06833227
chr214658960046589751E06833384
chr214658979546589890E06833579
chr214651145646511889E069-44327
chr214652234846522818E069-33398
chr214652284046523022E069-33194
chr214652562346525753E069-30463
chr214652592846526013E069-30203
chr214652605446526431E069-29785
chr214656019546560705E0693979
chr214656072246560885E0694506
chr214657862446578674E06922408
chr214658887146589305E06932655
chr214658944346589520E06933227
chr214658960046589751E06933384
chr214658979546589890E06933579
chr214652234846522818E070-33398
chr214652284046523022E070-33194
chr214654192246542138E070-14078
chr214654222846542290E070-13926
chr214654253146542581E070-13635
chr214654266146542738E070-13478
chr214654277046543023E070-13193
chr214657126446571743E07015048
chr214657177946572000E07015563
chr214651145646511889E071-44327
chr214651199046512128E071-44088
chr214651295046513047E071-43169
chr214651306546513176E071-43040
chr214651318646513513E071-42703
chr214652234846522818E071-33398
chr214652284046523022E071-33194
chr214652356346523679E071-32537
chr214652383946524870E071-31346
chr214653050246531144E071-25072
chr214653119846531420E071-24796
chr214653151546531584E071-24632
chr214653160346531865E071-24351
chr214653193346532076E071-24140
chr214653212546532253E071-23963
chr214653228046532383E071-23833
chr214654903246550912E071-5304
chr214655251846552598E071-3618
chr214655275946552828E071-3388
chr214655284946553154E071-3062
chr214655331546553458E071-2758
chr214655350046553668E071-2548
chr214656019546560705E0713979
chr214656072246560885E0714506
chr214656214846562221E0715932
chr214656222746562283E0716011
chr214656232446563010E0716108
chr214657695446577004E07120738
chr214657705546577116E07120839
chr214657793246578035E07121716
chr214657804946578256E07121833
chr214658887146589305E07132655
chr214658944346589520E07133227
chr214658960046589751E07133384
chr214658979546589890E07133579
chr214651145646511889E072-44327
chr214651199046512128E072-44088
chr214652562346525753E072-30463
chr214652592846526013E072-30203
chr214652605446526431E072-29785
chr214652903246530450E072-25766
chr214653050246531144E072-25072
chr214653119846531420E072-24796
chr214655097646551039E072-5177
chr214655110346551158E072-5058
chr214655122646551339E072-4877
chr214655140746551493E072-4723
chr214656232446563010E0726108
chr214657206546572789E07215849
chr214657740146577472E07221185
chr214657765946577772E07221443
chr214657793246578035E07221716
chr214658887146589305E07232655
chr214658944346589520E07233227
chr214651145646511889E073-44327
chr214652029146520342E073-35874
chr214652073246520836E073-35380
chr214652234846522818E073-33398
chr214652284046523022E073-33194
chr214652562346525753E073-30463
chr214653119846531420E073-24796
chr214653151546531584E073-24632
chr214654903246550912E073-5304
chr214655097646551039E073-5177
chr214655110346551158E073-5058
chr214655122646551339E073-4877
chr214655140746551493E073-4723
chr214655151546551785E073-4431
chr214658323946583337E07327023
chr214658338546584439E07327169
chr214652383946524870E074-31346
chr214652562346525753E074-30463
chr214655331546553458E074-2758
chr214656232446563010E0746108
chr214651032646510380E081-45836
chr214651050346510553E081-45663
chr214651072146510771E081-45445
chr214651093346511168E081-45048
chr214651145646511889E081-44327
chr214651199046512128E081-44088
chr214651223446512292E081-43924
chr214651295046513047E081-43169
chr214651306546513176E081-43040
chr214651318646513513E081-42703
chr214651405946514219E081-41997
chr214651440546514682E081-41534
chr214651473646514876E081-41340
chr214651760246517674E081-38542
chr214651773246517852E081-38364
chr214651791146517979E081-38237
chr214651807746518127E081-38089
chr214651820346518287E081-37929
chr214651864546519091E081-37125
chr214651959846519786E081-36430
chr214651983146520281E081-35935
chr214652029146520342E081-35874
chr214652073246520836E081-35380
chr214652099846521077E081-35139
chr214652886646528946E081-27270
chr214652903246530450E081-25766
chr214653399346534421E081-21795
chr214653443846534627E081-21589
chr214654038946540440E081-15776
chr214654096946541202E081-15014
chr214655251846552598E081-3618
chr214655275946552828E081-3388
chr214655284946553154E081-3062
chr214657177946572000E08115563
chr214650984846509979E082-46237
chr214651003146510131E082-46085
chr214651032646510380E082-45836
chr214651050346510553E082-45663
chr214651072146510771E082-45445
chr214651093346511168E082-45048
chr214651145646511889E082-44327
chr214651199046512128E082-44088
chr214651223446512292E082-43924
chr214651295046513047E082-43169
chr214651306546513176E082-43040
chr214651318646513513E082-42703
chr214651440546514682E082-41534
chr214651473646514876E082-41340
chr214651492146515075E082-41141
chr214651538846515440E082-40776
chr214651546946515519E082-40697
chr214651556746515718E082-40498
chr214651576946515813E082-40403
chr214651584546516106E082-40110
chr214651611946516387E082-39829
chr214651864546519091E082-37125
chr214651959846519786E082-36430
chr214651983146520281E082-35935
chr214652029146520342E082-35874
chr214657085646571134E08214640
chr214657126446571743E08215048
chr214657177946572000E08215563
chr214657206546572789E08215849