rs1148552

Homo sapiens
C>T
DCTN2 : 2KB Upstream Variant
KIF5A : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0077 (2281/29432,GnomAD)
T=0108 (3154/29118,TOPMED)
T=0084 (423/5008,1000G)
T=0029 (111/3854,ALSPAC)
T=0030 (110/3708,TWINSUK)
chr12:57549189 (GRCh38.p7) (12q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.57549189C>T
GRCh37.p13 chr 12NC_000012.11:g.57942972C>T
KIF5A RefSeqGeneNG_008155.1:g.4126C>T

Gene: DCTN2, dynactin subunit 2(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
DCTN2 transcript variant 2NM_001261412.1:c.N/AUpstream Transcript Variant
DCTN2 transcript variant 3NM_001261413.1:c.N/AUpstream Transcript Variant
DCTN2 transcript variant 1NM_006400.4:c.N/AUpstream Transcript Variant
DCTN2 transcript variant X3XM_011537761.2:c.N/AUpstream Transcript Variant
DCTN2 transcript variant X1XR_001748556.1:n.N/AUpstream Transcript Variant
DCTN2 transcript variant X2XR_944481.2:n.N/AUpstream Transcript Variant

Gene: KIF5A, kinesin family member 5A(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
KIF5A transcriptNM_004984.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.778T=0.222
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.951T=0.049
1000GenomesGlobalStudy-wide5008C=0.916T=0.084
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.971T=0.029
The Genome Aggregation DatabaseAfricanSub8616C=0.826T=0.174
The Genome Aggregation DatabaseAmericanSub836C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1612C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18066C=0.959T=0.040
The Genome Aggregation DatabaseGlobalStudy-wide29432C=0.922T=0.077
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.891T=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.970T=0.030
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs11485520.00049alcohol dependence20201924

eQTL of rs1148552 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 rs1148552 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 )
chr125791044757911081E067-31891
chr125791109357911330E067-31642
chr125791134857911490E067-31482
chr125791150457911591E067-31381
chr125791841557919003E067-23969
chr125794153857941615E067-1357
chr125794284657943177E0670
chr125798961557989655E06746643
chr125798969157989741E06746719
chr125791109357911330E068-31642
chr125791134857911490E068-31482
chr125791150457911591E068-31381
chr125791900457919195E068-23777
chr125791919857919312E068-23660
chr125791932957919413E068-23559
chr125792905657929165E068-13807
chr125792938257929462E068-13510
chr125792950857929639E068-13333
chr125793733757937458E068-5514
chr125793746357937751E068-5221
chr125793788357937951E068-5021
chr125793877557938892E068-4080
chr125794608557946151E0683113
chr125794631257946362E0683340
chr125791109357911330E069-31642
chr125791134857911490E069-31482
chr125791841557919003E069-23969
chr125791900457919195E069-23777
chr125791919857919312E069-23660
chr125793733757937458E069-5514
chr125793746357937751E069-5221
chr125793788357937951E069-5021
chr125793877557938892E069-4080
chr125791841557919003E070-23969
chr125791900457919195E070-23777
chr125791919857919312E070-23660
chr125791932957919413E070-23559
chr125791949757919547E070-23425
chr125791959657919669E070-23303
chr125791972757920070E070-22902
chr125792007457920277E070-22695
chr125792037757920427E070-22545
chr125792047057920903E070-22069
chr125793733757937458E070-5514
chr125793746357937751E070-5221
chr125793877557938892E070-4080
chr125794869257948811E0705720
chr125794882057948870E0705848
chr125795068457950748E0707712
chr125798630457986681E07043332
chr125798673757986941E07043765
chr125798701657987056E07044044
chr125791134857911490E071-31482
chr125791150457911591E071-31381
chr125793733757937458E071-5514
chr125793746357937751E071-5221
chr125793788357937951E071-5021
chr125793877557938892E071-4080
chr125794153857941615E071-1357
chr125794284657943177E0710
chr125794709357947283E0714121
chr125791044757911081E072-31891
chr125791109357911330E072-31642
chr125791134857911490E072-31482
chr125791150457911591E072-31381
chr125791187457912541E072-30431
chr125793733757937458E072-5514
chr125793746357937751E072-5221
chr125793788357937951E072-5021
chr125793877557938892E072-4080
chr125791044757911081E073-31891
chr125791109357911330E073-31642
chr125791134857911490E073-31482
chr125791150457911591E073-31381
chr125791841557919003E073-23969
chr125791900457919195E073-23777
chr125791919857919312E073-23660
chr125791932957919413E073-23559
chr125791949757919547E073-23425
chr125791959657919669E073-23303
chr125791972757920070E073-22902
chr125792007457920277E073-22695
chr125793733757937458E073-5514
chr125793746357937751E073-5221
chr125793788357937951E073-5021
chr125791841557919003E074-23969
chr125791841557919003E081-23969
chr125791900457919195E081-23777
chr125791919857919312E081-23660
chr125791932957919413E081-23559
chr125791949757919547E081-23425
chr125791959657919669E081-23303
chr125791972757920070E081-22902
chr125792007457920277E081-22695
chr125793877557938892E081-4080
chr125794284657943177E0810
chr125794631257946362E0813340
chr125794640857946458E0813436
chr125794649557946547E0813523
chr125794869257948811E0815720
chr125794882057948870E0815848
chr125795025057950469E0817278
chr125798630457986681E08143332
chr125798673757986941E08143765
chr125798701657987056E08144044
chr125798713857987204E08144166
chr125791841557919003E082-23969
chr125791900457919195E082-23777
chr125791919857919312E082-23660
chr125791932957919413E082-23559
chr125791949757919547E082-23425
chr125791959657919669E082-23303
chr125791972757920070E082-22902
chr125793733757937458E082-5514
chr125793746357937751E082-5221
chr125793788357937951E082-5021
chr125793877557938892E082-4080
chr125794869257948811E0825720
chr125794882057948870E0825848










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125791285257915051E067-27921
chr125793951157941533E067-1439
chr125794324857944621E067276
chr125794468157944857E0671709
chr125794488657945001E0671914
chr125794506557945105E0672093
chr125794511557945274E0672143
chr125794543357945560E0672461
chr125794558957945751E0672617
chr125794584557945940E0672873
chr125794729357947404E0674321
chr125798418457986177E06741212
chr125791285257915051E068-27921
chr125793951157941533E068-1439
chr125794324857944621E068276
chr125794468157944857E0681709
chr125794488657945001E0681914
chr125794506557945105E0682093
chr125794511557945274E0682143
chr125794543357945560E0682461
chr125794558957945751E0682617
chr125794729357947404E0684321
chr125798418457986177E06841212
chr125791285257915051E069-27921
chr125793951157941533E069-1439
chr125794324857944621E069276
chr125794468157944857E0691709
chr125794488657945001E0691914
chr125794506557945105E0692093
chr125794511557945274E0692143
chr125794543357945560E0692461
chr125794558957945751E0692617
chr125794584557945940E0692873
chr125794729357947404E0694321
chr125798418457986177E06941212
chr125791285257915051E070-27921
chr125793951157941533E070-1439
chr125794324857944621E070276
chr125794468157944857E0701709
chr125794488657945001E0701914
chr125794506557945105E0702093
chr125794511557945274E0702143
chr125794543357945560E0702461
chr125794558957945751E0702617
chr125794584557945940E0702873
chr125794729357947404E0704321
chr125798418457986177E07041212
chr125791285257915051E071-27921
chr125793951157941533E071-1439
chr125794324857944621E071276
chr125794468157944857E0711709
chr125798418457986177E07141212
chr125791285257915051E072-27921
chr125793951157941533E072-1439
chr125794324857944621E072276
chr125794468157944857E0721709
chr125794488657945001E0721914
chr125794506557945105E0722093
chr125794511557945274E0722143
chr125794543357945560E0722461
chr125794558957945751E0722617
chr125794584557945940E0722873
chr125794729357947404E0724321
chr125798418457986177E07241212
chr125791285257915051E073-27921
chr125793951157941533E073-1439
chr125794324857944621E073276
chr125794468157944857E0731709
chr125794488657945001E0731914
chr125794506557945105E0732093
chr125794511557945274E0732143
chr125794543357945560E0732461
chr125794558957945751E0732617
chr125794584557945940E0732873
chr125794729357947404E0734321
chr125798418457986177E07341212
chr125791285257915051E074-27921
chr125793951157941533E074-1439
chr125794324857944621E074276
chr125794468157944857E0741709
chr125798418457986177E07441212
chr125791285257915051E081-27921
chr125794324857944621E081276
chr125794468157944857E0811709
chr125794488657945001E0811914
chr125794506557945105E0812093
chr125794511557945274E0812143
chr125794543357945560E0812461
chr125794558957945751E0812617
chr125794584557945940E0812873
chr125794729357947404E0814321
chr125798418457986177E08141212
chr125791285257915051E082-27921
chr125793951157941533E082-1439
chr125794324857944621E082276
chr125794468157944857E0821709
chr125794488657945001E0821914
chr125794506557945105E0822093
chr125794511557945274E0822143
chr125794543357945560E0822461
chr125794558957945751E0822617
chr125794584557945940E0822873
chr125794729357947404E0824321
chr125798418457986177E08241212