rs9945493

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0040 (1222/29958,GnomAD)
A=0056 (1631/29118,TOPMED)
A=0037 (187/5008,1000G)
A=0035 (135/3854,ALSPAC)
A=0038 (141/3708,TWINSUK)
chr18:78743253 (GRCh38.p7) (18q23)
AD
GWASdb2
2   publication(s)
See rs on genome
97 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.78743253G>A
GRCh37.p13 chr 18NC_000018.9:g.76503253G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.905A=0.095
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.971A=0.029
1000GenomesGlobalStudy-wide5008G=0.963A=0.037
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.965A=0.035
The Genome Aggregation DatabaseAfricanSub8714G=0.919A=0.081
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1618G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18486G=0.973A=0.027
The Genome Aggregation DatabaseGlobalStudy-wide29958G=0.959A=0.040
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.944A=0.056
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.962A=0.038
PMID Title Author Journal
21059989Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals.Lee JHArch Neurol
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs99454935E-06alcohol dependence21956439

eQTL of rs9945493 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 rs9945493 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 )
chr187649405176494224E067-9029
chr187649428876494477E067-8776
chr187648065976482330E068-20923
chr187648236076482923E068-20330
chr187648296976483043E068-20210
chr187648308076483242E068-20011
chr187648356876483662E068-19591
chr187648366876483775E068-19478
chr187649381976493981E068-9272
chr187649405176494224E068-9029
chr187653637076536492E06833117
chr187648065976482330E069-20923
chr187649363576493685E069-9568
chr187649381976493981E069-9272
chr187649405176494224E069-9029
chr187649428876494477E069-8776
chr187649461076494663E069-8590
chr187646083676460910E070-42343
chr187646268876462744E070-40509
chr187646308076463191E070-40062
chr187646338376463438E070-39815
chr187646455176464601E070-38652
chr187646473076464780E070-38473
chr187646515576465217E070-38036
chr187647367976473729E070-29524
chr187647957976479629E070-23624
chr187648005276480109E070-23144
chr187648043576480485E070-22768
chr187648053276480590E070-22663
chr187648059176480641E070-22612
chr187648065976482330E070-20923
chr187648236076482923E070-20330
chr187648296976483043E070-20210
chr187648308076483242E070-20011
chr187648356876483662E070-19591
chr187648366876483775E070-19478
chr187648398776484027E070-19226
chr187648410376484322E070-18931
chr187648965876489728E070-13525
chr187648976676489858E070-13395
chr187648987376489923E070-13330
chr187651584176515891E07012588
chr187651597276516027E07012719
chr187651624776516307E07012994
chr187651796476518052E07014711
chr187652380676524021E07020553
chr187652436876524409E07021115
chr187652979276529960E07026539
chr187653011776530180E07026864
chr187653024076530440E07026987
chr187653061076530995E07027357
chr187653637076536492E07033117
chr187653669576536799E07033442
chr187653683076536938E07033577
chr187653698876537038E07033735
chr187653704176537219E07033788
chr187646236176462401E071-40852
chr187648356876483662E071-19591
chr187648366876483775E071-19478
chr187649381976493981E071-9272
chr187649405176494224E071-9029
chr187649428876494477E071-8776
chr187645965176459899E072-43354
chr187646146076461710E072-41543
chr187646177176462353E072-40900
chr187648065976482330E072-20923
chr187649381976493981E072-9272
chr187649405176494224E072-9029
chr187649428876494477E072-8776
chr187649461076494663E072-8590
chr187650153776501626E072-1627
chr187650163376501795E072-1458
chr187650185976501899E072-1354
chr187649381976493981E073-9272
chr187649405176494224E073-9029
chr187649428876494477E073-8776
chr187648065976482330E074-20923
chr187648236076482923E074-20330
chr187648296976483043E074-20210
chr187648308076483242E074-20011
chr187648356876483662E074-19591
chr187648366876483775E074-19478
chr187649363576493685E074-9568
chr187649381976493981E074-9272
chr187649405176494224E074-9029
chr187649428876494477E074-8776
chr187649461076494663E074-8590
chr187646236176462401E081-40852
chr187646338376463438E081-39815
chr187648043576480485E081-22768
chr187648053276480590E081-22663
chr187648059176480641E081-22612
chr187648065976482330E081-20923
chr187648043576480485E082-22768
chr187648053276480590E082-22663
chr187648059176480641E082-22612
chr187648065976482330E082-20923










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr187646355676463712E068-39541
chr187646391276463952E068-39301
chr187646355676463712E069-39541
chr187646391276463952E069-39301
chr187646355676463712E073-39541
chr187646391276463952E073-39301