rs471677

Homo sapiens
A>C
NTM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0250 (7486/29944,GnomAD)
C=0212 (6185/29118,TOPMED)
C=0347 (1739/5008,1000G)
C=0243 (935/3854,ALSPAC)
C=0227 (842/3708,TWINSUK)
chr11:131957812 (GRCh38.p7) (11q25)
AD
GWASdb2
1   publication(s)
See rs on genome
209 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.131957812A>C
GRCh37.p13 chr 11NC_000011.9:g.131827706A>C

Gene: NTM, neurotrimin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NTM transcript variant 2NM_001048209.1:c.N/AIntron Variant
NTM transcript variant 3NM_001144058.1:c.N/AIntron Variant
NTM transcript variant 4NM_001144059.1:c.N/AIntron Variant
NTM transcript variant 1NM_016522.2:c.N/AIntron Variant
NTM transcript variant X9XM_005271580.3:c.N/AIntron Variant
NTM transcript variant X6XM_005271581.3:c.N/AIntron Variant
NTM transcript variant X12XM_005271582.3:c.N/AIntron Variant
NTM transcript variant X13XM_006718855.3:c.N/AIntron Variant
NTM transcript variant X23XM_006718857.3:c.N/AIntron Variant
NTM transcript variant X16XM_011542861.2:c.N/AIntron Variant
NTM transcript variant X1XM_017017851.1:c.N/AIntron Variant
NTM transcript variant X3XM_017017852.1:c.N/AIntron Variant
NTM transcript variant X4XM_017017853.1:c.N/AIntron Variant
NTM transcript variant X4XM_017017854.1:c.N/AIntron Variant
NTM transcript variant X7XM_017017855.1:c.N/AIntron Variant
NTM transcript variant X8XM_017017856.1:c.N/AIntron Variant
NTM transcript variant X11XM_017017857.1:c.N/AIntron Variant
NTM transcript variant X14XM_017017858.1:c.N/AIntron Variant
NTM transcript variant X11XM_017017859.1:c.N/AIntron Variant
NTM transcript variant X16XM_017017860.1:c.N/AIntron Variant
NTM transcript variant X17XM_017017861.1:c.N/AIntron Variant
NTM transcript variant X18XM_017017862.1:c.N/AIntron Variant
NTM transcript variant X15XM_017017863.1:c.N/AIntron Variant
NTM transcript variant X21XM_017017864.1:c.N/AIntron Variant
NTM transcript variant X22XM_017017865.1:c.N/AIntron Variant
NTM transcript variant X24XM_017017866.1:c.N/AIntron Variant
NTM transcript variant X29XM_017017867.1:c.N/AGenic Upstream Transcript Variant
NTM transcript variant X1XR_001747893.1:n.N/AIntron Variant
NTM transcript variant X8XR_001747894.1:n.N/AIntron Variant
NTM transcript variant X25XR_001747895.1:n.N/AIntron Variant
NTM transcript variant X20XR_001747896.1:n.N/AIntron Variant
NTM transcript variant X27XR_001747897.1:n.N/AIntron Variant
NTM transcript variant X28XR_001747898.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.892C=0.108
1000GenomesAmericanSub694A=0.620C=0.380
1000GenomesEast AsianSub1008A=0.280C=0.720
1000GenomesEuropeSub1006A=0.755C=0.245
1000GenomesGlobalStudy-wide5008A=0.653C=0.347
1000GenomesSouth AsianSub978A=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.757C=0.243
The Genome Aggregation DatabaseAfricanSub8716A=0.880C=0.120
The Genome Aggregation DatabaseAmericanSub836A=0.570C=0.430
The Genome Aggregation DatabaseEast AsianSub1622A=0.264C=0.736
The Genome Aggregation DatabaseEuropeSub18470A=0.737C=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.750C=0.250
The Genome Aggregation DatabaseOtherSub300A=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.787C=0.212
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.773C=0.227
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
rs4716770.000645alcohol consumption (maxi-drinks)24277619

eQTL of rs471677 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 rs471677 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 )
chr11131792742131792818E067-34888
chr11131793879131794710E067-32996
chr11131802470131802773E067-24933
chr11131802842131803129E067-24577
chr11131808159131808597E067-19109
chr11131858262131858344E06730556
chr11131868820131869323E06741114
chr11131869348131869510E06741642
chr11131869536131869586E06741830
chr11131870007131870119E06742301
chr11131779353131780021E068-47685
chr11131784727131784777E068-42929
chr11131793879131794710E068-32996
chr11131802330131802416E068-25290
chr11131802470131802773E068-24933
chr11131802842131803129E068-24577
chr11131803273131803364E068-24342
chr11131808159131808597E068-19109
chr11131808695131808771E068-18935
chr11131812911131812974E068-14732
chr11131812996131813098E068-14608
chr11131813129131813274E068-14432
chr11131813278131813534E068-14172
chr11131813544131813668E068-14038
chr11131846827131848930E06819121
chr11131854901131855069E06827195
chr11131855140131855225E06827434
chr11131855416131855469E06827710
chr11131855526131855745E06827820
chr11131868820131869323E06841114
chr11131869348131869510E06841642
chr11131869536131869586E06841830
chr11131869716131869823E06842010
chr11131870007131870119E06842301
chr11131876517131876578E06848811
chr11131876626131876813E06848920
chr11131876867131876919E06849161
chr11131787408131787468E069-40238
chr11131787512131787601E069-40105
chr11131787665131788140E069-39566
chr11131802330131802416E069-25290
chr11131802470131802773E069-24933
chr11131802842131803129E069-24577
chr11131803273131803364E069-24342
chr11131808159131808597E069-19109
chr11131808695131808771E069-18935
chr11131834585131834682E0696879
chr11131834757131834817E0697051
chr11131849542131849611E06921836
chr11131868416131868506E06940710
chr11131868820131869323E06941114
chr11131869348131869510E06941642
chr11131779353131780021E070-47685
chr11131801510131801626E070-26080
chr11131801922131802009E070-25697
chr11131802083131802143E070-25563
chr11131802330131802416E070-25290
chr11131802470131802773E070-24933
chr11131802842131803129E070-24577
chr11131810661131810715E070-16991
chr11131842428131842672E07014722
chr11131843026131843273E07015320
chr11131843286131843374E07015580
chr11131846827131848930E07019121
chr11131867842131868369E07040136
chr11131868416131868506E07040710
chr11131868820131869323E07041114
chr11131869348131869510E07041642
chr11131869536131869586E07041830
chr11131779353131780021E071-47685
chr11131793879131794710E071-32996
chr11131798707131798821E071-28885
chr11131802330131802416E071-25290
chr11131802470131802773E071-24933
chr11131802842131803129E071-24577
chr11131808159131808597E071-19109
chr11131813278131813534E071-14172
chr11131813544131813668E071-14038
chr11131813686131813780E071-13926
chr11131814196131814396E071-13310
chr11131834105131834155E0716399
chr11131834171131834226E0716465
chr11131834585131834682E0716879
chr11131834757131834817E0717051
chr11131846827131848930E07119121
chr11131848967131849017E07121261
chr11131849542131849611E07121836
chr11131850977131851195E07123271
chr11131851218131851513E07123512
chr11131851576131851633E07123870
chr11131851678131851728E07123972
chr11131851897131852002E07124191
chr11131852042131852521E07124336
chr11131867842131868369E07140136
chr11131868416131868506E07140710
chr11131868820131869323E07141114
chr11131869348131869510E07141642
chr11131869536131869586E07141830
chr11131876517131876578E07148811
chr11131876626131876813E07148920
chr11131876867131876919E07149161
chr11131877108131877158E07149402
chr11131877234131877325E07149528
chr11131877333131877401E07149627
chr11131788158131788249E072-39457
chr11131788356131788439E072-39267
chr11131793879131794710E072-32996
chr11131794754131795039E072-32667
chr11131795154131795231E072-32475
chr11131802470131802773E072-24933
chr11131802842131803129E072-24577
chr11131803273131803364E072-24342
chr11131803615131803700E072-24006
chr11131808159131808597E072-19109
chr11131808695131808771E072-18935
chr11131834105131834155E0726399
chr11131834171131834226E0726465
chr11131834585131834682E0726879
chr11131834757131834817E0727051
chr11131835168131835234E0727462
chr11131850582131850690E07222876
chr11131850707131850818E07223001
chr11131850842131850927E07223136
chr11131850977131851195E07223271
chr11131851218131851513E07223512
chr11131852042131852521E07224336
chr11131868820131869323E07241114
chr11131869348131869510E07241642
chr11131869536131869586E07241830
chr11131876517131876578E07248811
chr11131876626131876813E07248920
chr11131876867131876919E07249161
chr11131877108131877158E07249402
chr11131877234131877325E07249528
chr11131877333131877401E07249627
chr11131779353131780021E073-47685
chr11131792207131792406E073-35300
chr11131792527131792580E073-35126
chr11131792742131792818E073-34888
chr11131793879131794710E073-32996
chr11131802842131803129E073-24577
chr11131803273131803364E073-24342
chr11131808159131808597E073-19109
chr11131834585131834682E0736879
chr11131834757131834817E0737051
chr11131868820131869323E07341114
chr11131793879131794710E074-32996
chr11131802330131802416E074-25290
chr11131802470131802773E074-24933
chr11131802842131803129E074-24577
chr11131803273131803364E074-24342
chr11131803615131803700E074-24006
chr11131803815131804477E074-23229
chr11131804830131804880E074-22826
chr11131806283131806412E074-21294
chr11131806552131806651E074-21055
chr11131806722131806772E074-20934
chr11131807461131807511E074-20195
chr11131808159131808597E074-19109
chr11131808695131808771E074-18935
chr11131809034131809084E074-18622
chr11131809170131809224E074-18482
chr11131812996131813098E074-14608
chr11131813129131813274E074-14432
chr11131813278131813534E074-14172
chr11131813544131813668E074-14038
chr11131813686131813780E074-13926
chr11131826264131826486E074-1220
chr11131848967131849017E07421261
chr11131849542131849611E07421836
chr11131851218131851513E07423512
chr11131851576131851633E07423870
chr11131851678131851728E07423972
chr11131851897131852002E07424191
chr11131852042131852521E07424336
chr11131855526131855745E07427820
chr11131855775131856316E07428069
chr11131868820131869323E07441114
chr11131869348131869510E07441642
chr11131869536131869586E07441830
chr11131877234131877325E07449528
chr11131877333131877401E07449627
chr11131779353131780021E081-47685
chr11131783114131783202E081-44504
chr11131783286131783429E081-44277
chr11131783816131783939E081-43767
chr11131783952131784038E081-43668
chr11131784247131784474E081-43232
chr11131787512131787601E081-40105
chr11131787665131788140E081-39566
chr11131788158131788249E081-39457
chr11131788356131788439E081-39267
chr11131814196131814396E081-13310
chr11131867545131867705E08139839
chr11131867842131868369E08140136
chr11131868416131868506E08140710
chr11131868820131869323E08141114
chr11131869348131869510E08141642
chr11131869536131869586E08141830
chr11131813129131813274E082-14432
chr11131813278131813534E082-14172
chr11131813544131813668E082-14038
chr11131813686131813780E082-13926
chr11131814196131814396E082-13310
chr11131855416131855469E08227710
chr11131855526131855745E08227820
chr11131855775131856316E08228069
chr11131868820131869323E08241114
chr11131869348131869510E08241642










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11131780027131781390E067-46316
chr11131781514131781754E067-45952
chr11131781769131781992E067-45714
chr11131782031131782351E067-45355
chr11131780027131781390E068-46316
chr11131781514131781754E068-45952
chr11131781769131781992E068-45714
chr11131782031131782351E068-45355
chr11131780027131781390E069-46316
chr11131781514131781754E069-45952
chr11131781769131781992E069-45714
chr11131782031131782351E069-45355
chr11131780027131781390E070-46316
chr11131780027131781390E071-46316
chr11131781514131781754E071-45952
chr11131781769131781992E071-45714
chr11131782031131782351E071-45355
chr11131780027131781390E072-46316
chr11131781514131781754E072-45952
chr11131781769131781992E072-45714
chr11131782031131782351E072-45355
chr11131780027131781390E073-46316
chr11131781514131781754E073-45952
chr11131781769131781992E073-45714
chr11131782031131782351E073-45355
chr11131780027131781390E074-46316
chr11131780027131781390E082-46316
chr11131781514131781754E082-45952
chr11131781769131781992E082-45714