rs1148551

Homo sapiens
G>A
KIF5A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0014 (444/29964,GnomAD)
A=0007 (208/29118,TOPMED)
A=0006 (32/5008,1000G)
A=0012 (45/3854,ALSPAC)
A=0012 (43/3708,TWINSUK)
chr12:57552077 (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.57552077G>A
GRCh37.p13 chr 12NC_000012.11:g.57945860G>A
KIF5A RefSeqGeneNG_008155.1:g.7014G>A

Gene: KIF5A, kinesin family member 5A(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=1.000A=0.000
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.977A=0.023
1000GenomesGlobalStudy-wide5008G=0.994A=0.006
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.988A=0.012
The Genome Aggregation DatabaseAfricanSub8716G=0.998A=0.002
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18486G=0.977A=0.022
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.985A=0.014
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.992A=0.007
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.988A=0.012
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
rs11485510.00074alcohol dependence20201924

eQTL of rs1148551 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 rs1148551 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 )
chr125791044757911081E067-34779
chr125791109357911330E067-34530
chr125791134857911490E067-34370
chr125791150457911591E067-34269
chr125791841557919003E067-26857
chr125794153857941615E067-4245
chr125794284657943177E067-2683
chr125798961557989655E06743755
chr125798969157989741E06743831
chr125791109357911330E068-34530
chr125791134857911490E068-34370
chr125791150457911591E068-34269
chr125791900457919195E068-26665
chr125791919857919312E068-26548
chr125791932957919413E068-26447
chr125792905657929165E068-16695
chr125792938257929462E068-16398
chr125792950857929639E068-16221
chr125793733757937458E068-8402
chr125793746357937751E068-8109
chr125793788357937951E068-7909
chr125793877557938892E068-6968
chr125794608557946151E068225
chr125794631257946362E068452
chr125791109357911330E069-34530
chr125791134857911490E069-34370
chr125791841557919003E069-26857
chr125791900457919195E069-26665
chr125791919857919312E069-26548
chr125793733757937458E069-8402
chr125793746357937751E069-8109
chr125793788357937951E069-7909
chr125793877557938892E069-6968
chr125791841557919003E070-26857
chr125791900457919195E070-26665
chr125791919857919312E070-26548
chr125791932957919413E070-26447
chr125791949757919547E070-26313
chr125791959657919669E070-26191
chr125791972757920070E070-25790
chr125792007457920277E070-25583
chr125792037757920427E070-25433
chr125792047057920903E070-24957
chr125793733757937458E070-8402
chr125793746357937751E070-8109
chr125793877557938892E070-6968
chr125794869257948811E0702832
chr125794882057948870E0702960
chr125795068457950748E0704824
chr125798630457986681E07040444
chr125798673757986941E07040877
chr125798701657987056E07041156
chr125791134857911490E071-34370
chr125791150457911591E071-34269
chr125793733757937458E071-8402
chr125793746357937751E071-8109
chr125793788357937951E071-7909
chr125793877557938892E071-6968
chr125794153857941615E071-4245
chr125794284657943177E071-2683
chr125794709357947283E0711233
chr125791044757911081E072-34779
chr125791109357911330E072-34530
chr125791134857911490E072-34370
chr125791150457911591E072-34269
chr125791187457912541E072-33319
chr125793733757937458E072-8402
chr125793746357937751E072-8109
chr125793788357937951E072-7909
chr125793877557938892E072-6968
chr125791044757911081E073-34779
chr125791109357911330E073-34530
chr125791134857911490E073-34370
chr125791150457911591E073-34269
chr125791841557919003E073-26857
chr125791900457919195E073-26665
chr125791919857919312E073-26548
chr125791932957919413E073-26447
chr125791949757919547E073-26313
chr125791959657919669E073-26191
chr125791972757920070E073-25790
chr125792007457920277E073-25583
chr125793733757937458E073-8402
chr125793746357937751E073-8109
chr125793788357937951E073-7909
chr125791841557919003E074-26857
chr125791841557919003E081-26857
chr125791900457919195E081-26665
chr125791919857919312E081-26548
chr125791932957919413E081-26447
chr125791949757919547E081-26313
chr125791959657919669E081-26191
chr125791972757920070E081-25790
chr125792007457920277E081-25583
chr125793877557938892E081-6968
chr125794284657943177E081-2683
chr125794631257946362E081452
chr125794640857946458E081548
chr125794649557946547E081635
chr125794869257948811E0812832
chr125794882057948870E0812960
chr125795025057950469E0814390
chr125798630457986681E08140444
chr125798673757986941E08140877
chr125798701657987056E08141156
chr125798713857987204E08141278
chr125791841557919003E082-26857
chr125791900457919195E082-26665
chr125791919857919312E082-26548
chr125791932957919413E082-26447
chr125791949757919547E082-26313
chr125791959657919669E082-26191
chr125791972757920070E082-25790
chr125793733757937458E082-8402
chr125793746357937751E082-8109
chr125793788357937951E082-7909
chr125793877557938892E082-6968
chr125794869257948811E0822832
chr125794882057948870E0822960










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125791285257915051E067-30809
chr125793951157941533E067-4327
chr125794324857944621E067-1239
chr125794468157944857E067-1003
chr125794488657945001E067-859
chr125794506557945105E067-755
chr125794511557945274E067-586
chr125794543357945560E067-300
chr125794558957945751E067-109
chr125794584557945940E0670
chr125794729357947404E0671433
chr125798418457986177E06738324
chr125791285257915051E068-30809
chr125793951157941533E068-4327
chr125794324857944621E068-1239
chr125794468157944857E068-1003
chr125794488657945001E068-859
chr125794506557945105E068-755
chr125794511557945274E068-586
chr125794543357945560E068-300
chr125794558957945751E068-109
chr125794729357947404E0681433
chr125798418457986177E06838324
chr125791285257915051E069-30809
chr125793951157941533E069-4327
chr125794324857944621E069-1239
chr125794468157944857E069-1003
chr125794488657945001E069-859
chr125794506557945105E069-755
chr125794511557945274E069-586
chr125794543357945560E069-300
chr125794558957945751E069-109
chr125794584557945940E0690
chr125794729357947404E0691433
chr125798418457986177E06938324
chr125791285257915051E070-30809
chr125793951157941533E070-4327
chr125794324857944621E070-1239
chr125794468157944857E070-1003
chr125794488657945001E070-859
chr125794506557945105E070-755
chr125794511557945274E070-586
chr125794543357945560E070-300
chr125794558957945751E070-109
chr125794584557945940E0700
chr125794729357947404E0701433
chr125798418457986177E07038324
chr125791285257915051E071-30809
chr125793951157941533E071-4327
chr125794324857944621E071-1239
chr125794468157944857E071-1003
chr125798418457986177E07138324
chr125791285257915051E072-30809
chr125793951157941533E072-4327
chr125794324857944621E072-1239
chr125794468157944857E072-1003
chr125794488657945001E072-859
chr125794506557945105E072-755
chr125794511557945274E072-586
chr125794543357945560E072-300
chr125794558957945751E072-109
chr125794584557945940E0720
chr125794729357947404E0721433
chr125798418457986177E07238324
chr125791285257915051E073-30809
chr125793951157941533E073-4327
chr125794324857944621E073-1239
chr125794468157944857E073-1003
chr125794488657945001E073-859
chr125794506557945105E073-755
chr125794511557945274E073-586
chr125794543357945560E073-300
chr125794558957945751E073-109
chr125794584557945940E0730
chr125794729357947404E0731433
chr125798418457986177E07338324
chr125791285257915051E074-30809
chr125793951157941533E074-4327
chr125794324857944621E074-1239
chr125794468157944857E074-1003
chr125798418457986177E07438324
chr125791285257915051E081-30809
chr125794324857944621E081-1239
chr125794468157944857E081-1003
chr125794488657945001E081-859
chr125794506557945105E081-755
chr125794511557945274E081-586
chr125794543357945560E081-300
chr125794558957945751E081-109
chr125794584557945940E0810
chr125794729357947404E0811433
chr125798418457986177E08138324
chr125791285257915051E082-30809
chr125793951157941533E082-4327
chr125794324857944621E082-1239
chr125794468157944857E082-1003
chr125794488657945001E082-859
chr125794506557945105E082-755
chr125794511557945274E082-586
chr125794543357945560E082-300
chr125794558957945751E082-109
chr125794584557945940E0820
chr125794729357947404E0821433
chr125798418457986177E08238324