rs6581146

Homo sapiens
C>T
KIF5A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0066 (2000/29968,GnomAD)
C==0088 (2575/29118,TOPMED)
C==0070 (352/5008,1000G)
C==0029 (110/3854,ALSPAC)
C==0028 (104/3708,TWINSUK)
chr12:57552694 (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.57552694C>T
GRCh37.p13 chr 12NC_000012.11:g.57946477C>T
KIF5A RefSeqGeneNG_008155.1:g.7631C>T

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
1000GenomesAfricanSub1322C=0.169T=0.831
1000GenomesAmericanSub694C=0.030T=0.970
1000GenomesEast AsianSub1008C=0.000T=1.000
1000GenomesEuropeSub1006C=0.049T=0.951
1000GenomesGlobalStudy-wide5008C=0.070T=0.930
1000GenomesSouth AsianSub978C=0.060T=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.029T=0.971
The Genome Aggregation DatabaseAfricanSub8726C=0.136T=0.864
The Genome Aggregation DatabaseAmericanSub836C=0.040T=0.960
The Genome Aggregation DatabaseEast AsianSub1622C=0.001T=0.999
The Genome Aggregation DatabaseEuropeSub18482C=0.041T=0.958
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.066T=0.933
The Genome Aggregation DatabaseOtherSub302C=0.040T=0.960
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.088T=0.911
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.028T=0.972
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
rs65811460.00036alcohol dependence20201924

eQTL of rs6581146 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 rs6581146 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 )
chr125791044757911081E067-35396
chr125791109357911330E067-35147
chr125791134857911490E067-34987
chr125791150457911591E067-34886
chr125791841557919003E067-27474
chr125794153857941615E067-4862
chr125794284657943177E067-3300
chr125798961557989655E06743138
chr125798969157989741E06743214
chr125799609057996150E06749613
chr125791109357911330E068-35147
chr125791134857911490E068-34987
chr125791150457911591E068-34886
chr125791900457919195E068-27282
chr125791919857919312E068-27165
chr125791932957919413E068-27064
chr125792905657929165E068-17312
chr125792938257929462E068-17015
chr125792950857929639E068-16838
chr125793733757937458E068-9019
chr125793746357937751E068-8726
chr125793788357937951E068-8526
chr125793877557938892E068-7585
chr125794608557946151E068-326
chr125794631257946362E068-115
chr125791109357911330E069-35147
chr125791134857911490E069-34987
chr125791841557919003E069-27474
chr125791900457919195E069-27282
chr125791919857919312E069-27165
chr125793733757937458E069-9019
chr125793746357937751E069-8726
chr125793788357937951E069-8526
chr125793877557938892E069-7585
chr125791841557919003E070-27474
chr125791900457919195E070-27282
chr125791919857919312E070-27165
chr125791932957919413E070-27064
chr125791949757919547E070-26930
chr125791959657919669E070-26808
chr125791972757920070E070-26407
chr125792007457920277E070-26200
chr125792037757920427E070-26050
chr125792047057920903E070-25574
chr125793733757937458E070-9019
chr125793746357937751E070-8726
chr125793877557938892E070-7585
chr125794869257948811E0702215
chr125794882057948870E0702343
chr125795068457950748E0704207
chr125798630457986681E07039827
chr125798673757986941E07040260
chr125798701657987056E07040539
chr125791134857911490E071-34987
chr125791150457911591E071-34886
chr125793733757937458E071-9019
chr125793746357937751E071-8726
chr125793788357937951E071-8526
chr125793877557938892E071-7585
chr125794153857941615E071-4862
chr125794284657943177E071-3300
chr125794709357947283E071616
chr125791044757911081E072-35396
chr125791109357911330E072-35147
chr125791134857911490E072-34987
chr125791150457911591E072-34886
chr125791187457912541E072-33936
chr125793733757937458E072-9019
chr125793746357937751E072-8726
chr125793788357937951E072-8526
chr125793877557938892E072-7585
chr125791044757911081E073-35396
chr125791109357911330E073-35147
chr125791134857911490E073-34987
chr125791150457911591E073-34886
chr125791841557919003E073-27474
chr125791900457919195E073-27282
chr125791919857919312E073-27165
chr125791932957919413E073-27064
chr125791949757919547E073-26930
chr125791959657919669E073-26808
chr125791972757920070E073-26407
chr125792007457920277E073-26200
chr125793733757937458E073-9019
chr125793746357937751E073-8726
chr125793788357937951E073-8526
chr125799592157996017E07349444
chr125799609057996150E07349613
chr125799625157996354E07349774
chr125791841557919003E074-27474
chr125791841557919003E081-27474
chr125791900457919195E081-27282
chr125791919857919312E081-27165
chr125791932957919413E081-27064
chr125791949757919547E081-26930
chr125791959657919669E081-26808
chr125791972757920070E081-26407
chr125792007457920277E081-26200
chr125793877557938892E081-7585
chr125794284657943177E081-3300
chr125794631257946362E081-115
chr125794640857946458E081-19
chr125794649557946547E08118
chr125794869257948811E0812215
chr125794882057948870E0812343
chr125795025057950469E0813773
chr125798630457986681E08139827
chr125798673757986941E08140260
chr125798701657987056E08140539
chr125798713857987204E08140661
chr125791841557919003E082-27474
chr125791900457919195E082-27282
chr125791919857919312E082-27165
chr125791932957919413E082-27064
chr125791949757919547E082-26930
chr125791959657919669E082-26808
chr125791972757920070E082-26407
chr125793733757937458E082-9019
chr125793746357937751E082-8726
chr125793788357937951E082-8526
chr125793877557938892E082-7585
chr125794869257948811E0822215
chr125794882057948870E0822343










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125791285257915051E067-31426
chr125793951157941533E067-4944
chr125794324857944621E067-1856
chr125794468157944857E067-1620
chr125794488657945001E067-1476
chr125794506557945105E067-1372
chr125794511557945274E067-1203
chr125794543357945560E067-917
chr125794558957945751E067-726
chr125794584557945940E067-537
chr125794729357947404E067816
chr125798418457986177E06737707
chr125791285257915051E068-31426
chr125793951157941533E068-4944
chr125794324857944621E068-1856
chr125794468157944857E068-1620
chr125794488657945001E068-1476
chr125794506557945105E068-1372
chr125794511557945274E068-1203
chr125794543357945560E068-917
chr125794558957945751E068-726
chr125794729357947404E068816
chr125798418457986177E06837707
chr125791285257915051E069-31426
chr125793951157941533E069-4944
chr125794324857944621E069-1856
chr125794468157944857E069-1620
chr125794488657945001E069-1476
chr125794506557945105E069-1372
chr125794511557945274E069-1203
chr125794543357945560E069-917
chr125794558957945751E069-726
chr125794584557945940E069-537
chr125794729357947404E069816
chr125798418457986177E06937707
chr125791285257915051E070-31426
chr125793951157941533E070-4944
chr125794324857944621E070-1856
chr125794468157944857E070-1620
chr125794488657945001E070-1476
chr125794506557945105E070-1372
chr125794511557945274E070-1203
chr125794543357945560E070-917
chr125794558957945751E070-726
chr125794584557945940E070-537
chr125794729357947404E070816
chr125798418457986177E07037707
chr125791285257915051E071-31426
chr125793951157941533E071-4944
chr125794324857944621E071-1856
chr125794468157944857E071-1620
chr125798418457986177E07137707
chr125791285257915051E072-31426
chr125793951157941533E072-4944
chr125794324857944621E072-1856
chr125794468157944857E072-1620
chr125794488657945001E072-1476
chr125794506557945105E072-1372
chr125794511557945274E072-1203
chr125794543357945560E072-917
chr125794558957945751E072-726
chr125794584557945940E072-537
chr125794729357947404E072816
chr125798418457986177E07237707
chr125791285257915051E073-31426
chr125793951157941533E073-4944
chr125794324857944621E073-1856
chr125794468157944857E073-1620
chr125794488657945001E073-1476
chr125794506557945105E073-1372
chr125794511557945274E073-1203
chr125794543357945560E073-917
chr125794558957945751E073-726
chr125794584557945940E073-537
chr125794729357947404E073816
chr125798418457986177E07337707
chr125791285257915051E074-31426
chr125793951157941533E074-4944
chr125794324857944621E074-1856
chr125794468157944857E074-1620
chr125798418457986177E07437707
chr125791285257915051E081-31426
chr125794324857944621E081-1856
chr125794468157944857E081-1620
chr125794488657945001E081-1476
chr125794506557945105E081-1372
chr125794511557945274E081-1203
chr125794543357945560E081-917
chr125794558957945751E081-726
chr125794584557945940E081-537
chr125794729357947404E081816
chr125798418457986177E08137707
chr125791285257915051E082-31426
chr125793951157941533E082-4944
chr125794324857944621E082-1856
chr125794468157944857E082-1620
chr125794488657945001E082-1476
chr125794506557945105E082-1372
chr125794511557945274E082-1203
chr125794543357945560E082-917
chr125794558957945751E082-726
chr125794584557945940E082-537
chr125794729357947404E082816
chr125798418457986177E08237707