rs10519005

Homo sapiens
C>T
FAM81A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0376 (11252/29928,GnomAD)
T=0315 (1580/5008,1000G)
T=0450 (1736/3854,ALSPAC)
T=0461 (1711/3708,TWINSUK)
chr15:59419492 (GRCh38.p7) (15q22.2)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
50 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.59419492C>T
GRCh37.p13 chr 15NC_000015.9:g.59711691C>T

Gene: FAM81A, family with sequence similarity 81 member A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM81A transcriptNM_152450.2:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X8XM_006720399.2:c.N/AIntron Variant
FAM81A transcript variant X4XM_011521248.2:c.N/AIntron Variant
FAM81A transcript variant X2XM_005254166.2:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X6XM_006720398.3:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X1XM_011521247.2:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X7XM_011521249.2:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X9XM_011521250.2:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X3XM_017021931.1:c.N/AGenic Upstream Transcript Variant
FAM81A transcript variant X5XM_017021932.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.908T=0.092
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.618T=0.382
1000GenomesEuropeSub1006C=0.565T=0.435
1000GenomesGlobalStudy-wide5008C=0.685T=0.315
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.550T=0.450
The Genome Aggregation DatabaseAfricanSub8724C=0.852T=0.148
The Genome Aggregation DatabaseAmericanSub838C=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1610C=0.634T=0.366
The Genome Aggregation DatabaseEuropeSub18454C=0.522T=0.477
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.624T=0.376
The Genome Aggregation DatabaseOtherSub302C=0.710T=0.290
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.539T=0.461
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs105190055E-06alcohol dependence (age at onset)24962325

eQTL of rs10519005 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 rs10519005 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 )
chr155973602759736255E06724336
chr155973632159736533E06724630
chr155969223759692680E068-19011
chr155969272859692913E068-18778
chr155969292659693023E068-18668
chr155969337959693903E068-17788
chr155973412359734203E06822432
chr155973566059735736E06823969
chr155969272859692913E069-18778
chr155969292659693023E069-18668
chr155973888359738960E06927192
chr155973910659739156E06927415
chr155973917159739225E06927480
chr155973953359739629E06927842
chr155969272859692913E070-18778
chr155969292659693023E070-18668
chr155969337959693903E070-17788
chr155969405759694205E070-17486
chr155969420759694288E070-17403
chr155969451159694641E070-17050
chr155969148159692226E071-19465
chr155969223759692680E071-19011
chr155969272859692913E071-18778
chr155969292659693023E071-18668
chr155969337959693903E071-17788
chr155969847459698514E071-13177
chr155973888359738960E07127192
chr155973953359739629E07127842
chr155969148159692226E072-19465
chr155973566059735736E07323969
chr155973577959735943E07324088
chr155973602759736255E07324336
chr155973632159736533E07324630
chr155973828459738334E07326593
chr155973910659739156E07327415
chr155973917159739225E07327480
chr155969148159692226E074-19465
chr155969223759692680E074-19011
chr155969272859692913E074-18778
chr155969292659693023E074-18668
chr155970897559709490E081-2201
chr155970955159709601E081-2090
chr155971211759712174E081426
chr155972870059728755E08117009
chr155973196359732029E08120272
chr155973602759736255E08124336
chr155973632159736533E08124630
chr155969405759694205E082-17486
chr155969420759694288E082-17403
chr155969451159694641E082-17050










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr155966182059665847E067-45844
chr155972893759731497E06717246
chr155973151059731644E06719819
chr155966182059665847E068-45844
chr155972893759731497E06817246
chr155966182059665847E069-45844
chr155972893759731497E06917246
chr155972893759731497E07017246
chr155966182059665847E071-45844
chr155972893759731497E07117246
chr155966182059665847E072-45844
chr155972893759731497E07217246
chr155973151059731644E07219819
chr155966182059665847E073-45844
chr155972893759731497E07317246
chr155966182059665847E074-45844
chr155972893759731497E07417246
chr155972893759731497E08117246
chr155966182059665847E082-45844
chr155972893759731497E08217246
chr155973151059731644E08219819