rs6807489

Homo sapiens
A>G
KLHL24 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0275 (8229/29882,GnomAD)
G=0305 (8896/29118,TOPMED)
G=0268 (1342/5008,1000G)
G=0265 (1021/3854,ALSPAC)
G=0253 (937/3708,TWINSUK)
chr3:183676674 (GRCh38.p7) (3q27.1)
AD
GWASdb2
1   publication(s)
See rs on genome
117 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.183676674A>G
GRCh37.p13 chr 3NC_000003.11:g.183394462A>G

Gene: KLHL24, kelch like family member 24(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KLHL24 transcript variant 7NM_017644.3:c.N/AIntron Variant
KLHL24 transcript variant X5XM_005247552.2:c.N/AIntron Variant
KLHL24 transcript variant X11XM_005247553.1:c.N/AIntron Variant
KLHL24 transcript variant X12XM_005247554.2:c.N/AIntron Variant
KLHL24 transcript variant X13XM_005247555.1:c.N/AIntron Variant
KLHL24 transcript variant X14XM_005247556.1:c.N/AIntron Variant
KLHL24 transcript variant X17XM_011512938.2:c.N/AIntron Variant
KLHL24 transcript variant X1XM_017006650.1:c.N/AIntron Variant
KLHL24 transcript variant X2XM_017006651.1:c.N/AIntron Variant
KLHL24 transcript variant X3XM_017006652.1:c.N/AIntron Variant
KLHL24 transcript variant X1XM_017006653.1:c.N/AIntron Variant
KLHL24 transcript variant X5XM_017006654.1:c.N/AIntron Variant
KLHL24 transcript variant X3XM_017006655.1:c.N/AIntron Variant
KLHL24 transcript variant X7XM_017006656.1:c.N/AIntron Variant
KLHL24 transcript variant X8XM_017006657.1:c.N/AIntron Variant
KLHL24 transcript variant X4XM_017006658.1:c.N/AIntron Variant
KLHL24 transcript variant X15XM_017006659.1:c.N/AIntron Variant
KLHL24 transcript variant X16XM_017006660.1:c.N/AIntron Variant
KLHL24 transcript variant X6XM_017006661.1:c.N/AIntron Variant
KLHL24 transcript variant X21XM_017006662.1:c.N/AIntron Variant
KLHL24 transcript variant X22XM_017006663.1:c.N/AIntron Variant
KLHL24 transcript variant X19XR_001740184.1:n.N/AIntron Variant
KLHL24 transcript variant X18XR_241499.3:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.645G=0.355
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.714G=0.286
1000GenomesEuropeSub1006A=0.743G=0.257
1000GenomesGlobalStudy-wide5008A=0.732G=0.268
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.735G=0.265
The Genome Aggregation DatabaseAfricanSub8698A=0.651G=0.349
The Genome Aggregation DatabaseAmericanSub838A=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1612A=0.682G=0.318
The Genome Aggregation DatabaseEuropeSub18432A=0.762G=0.237
The Genome Aggregation DatabaseGlobalStudy-wide29882A=0.724G=0.275
The Genome Aggregation DatabaseOtherSub302A=0.710G=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.694G=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.747G=0.253
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs68074890.000113alcohol consumption (maxi-drinks)24277619

eQTL of rs6807489 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:183394462MAP6D1ENSG00000180834.3A>G4.7177e-10-148920Cerebellum
Chr3:183394462KLHL24ENSG00000114796.11A>G5.3694e-541106Frontal_Cortex_BA9
Chr3:183394462KLHL24ENSG00000114796.11A>G3.0473e-441106Cortex
Chr3:183394462YEATS2-AS1ENSG00000233885.3A>G2.3026e-14-133800Cerebellar_Hemisphere
Chr3:183394462KLHL24ENSG00000114796.11A>G1.4036e-1041106Caudate_basal_ganglia
Chr3:183394462KLHL24ENSG00000114796.11A>G1.0169e-241106Hippocampus
Chr3:183394462KLHL24ENSG00000114796.11A>G1.8478e-341106Putamen_basal_ganglia

meQTL of rs6807489 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 )
chr3183355437183355596E067-38866
chr3183355727183356269E067-38193
chr3183359503183359553E067-34909
chr3183359751183360409E067-34053
chr3183368354183368685E067-25777
chr3183368706183368760E067-25702
chr3183375190183375240E067-19222
chr3183377593183377643E067-16819
chr3183378019183378084E067-16378
chr3183379326183379581E067-14881
chr3183380065183380189E067-14273
chr3183380910183380973E067-13489
chr3183382611183382721E067-11741
chr3183382746183383170E067-11292
chr3183418938183419004E06724476
chr3183428107183428191E06733645
chr3183355437183355596E068-38866
chr3183356374183356481E068-37981
chr3183356485183356580E068-37882
chr3183356597183356727E068-37735
chr3183357912183358128E068-36334
chr3183359503183359553E068-34909
chr3183359751183360409E068-34053
chr3183377593183377643E068-16819
chr3183379326183379581E068-14881
chr3183380065183380189E068-14273
chr3183382611183382721E068-11741
chr3183382746183383170E068-11292
chr3183383726183383787E068-10675
chr3183428107183428191E06833645
chr3183355437183355596E069-38866
chr3183355727183356269E069-38193
chr3183356374183356481E069-37981
chr3183356485183356580E069-37882
chr3183356597183356727E069-37735
chr3183359503183359553E069-34909
chr3183375190183375240E069-19222
chr3183377593183377643E069-16819
chr3183378019183378084E069-16378
chr3183380910183380973E069-13489
chr3183382611183382721E069-11741
chr3183382746183383170E069-11292
chr3183428107183428191E06933645
chr3183432300183432760E06937838
chr3183418938183419004E07024476
chr3183428107183428191E07033645
chr3183355437183355596E071-38866
chr3183355727183356269E071-38193
chr3183356374183356481E071-37981
chr3183356485183356580E071-37882
chr3183356597183356727E071-37735
chr3183359503183359553E071-34909
chr3183359751183360409E071-34053
chr3183375190183375240E071-19222
chr3183377593183377643E071-16819
chr3183379326183379581E071-14881
chr3183380065183380189E071-14273
chr3183380910183380973E071-13489
chr3183382611183382721E071-11741
chr3183382746183383170E071-11292
chr3183383726183383787E071-10675
chr3183384114183384166E071-10296
chr3183418617183418708E07124155
chr3183428107183428191E07133645
chr3183432300183432760E07137838
chr3183355727183356269E072-38193
chr3183356374183356481E072-37981
chr3183356485183356580E072-37882
chr3183356597183356727E072-37735
chr3183357912183358128E072-36334
chr3183359503183359553E072-34909
chr3183377593183377643E072-16819
chr3183378913183378963E072-15499
chr3183379326183379581E072-14881
chr3183380065183380189E072-14273
chr3183380910183380973E072-13489
chr3183382611183382721E072-11741
chr3183382746183383170E072-11292
chr3183418938183419004E07224476
chr3183419613183419821E07225151
chr3183425103183425400E07230641
chr3183428107183428191E07233645
chr3183355727183356269E073-38193
chr3183356374183356481E073-37981
chr3183356485183356580E073-37882
chr3183356597183356727E073-37735
chr3183357912183358128E073-36334
chr3183359503183359553E073-34909
chr3183368354183368685E073-25777
chr3183368706183368760E073-25702
chr3183377593183377643E073-16819
chr3183379326183379581E073-14881
chr3183380065183380189E073-14273
chr3183355437183355596E074-38866
chr3183355727183356269E074-38193
chr3183356374183356481E074-37981
chr3183356485183356580E074-37882
chr3183356597183356727E074-37735
chr3183357912183358128E074-36334
chr3183359503183359553E074-34909
chr3183359751183360409E074-34053
chr3183377593183377643E074-16819
chr3183379326183379581E074-14881
chr3183380065183380189E074-14273
chr3183382611183382721E074-11741
chr3183382746183383170E074-11292
chr3183428107183428191E07433645
chr3183355437183355596E081-38866
chr3183355727183356269E081-38193
chr3183359503183359553E081-34909
chr3183359751183360409E081-34053
chr3183418938183419004E08124476
chr3183355437183355596E082-38866
chr3183355727183356269E082-38193
chr3183377593183377643E082-16819
chr3183419613183419821E08225151
chr3183428107183428191E08233645










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3183352694183355307E067-39155
chr3183414926183416707E06720464
chr3183416717183416941E06722255
chr3183416947183417034E06722485
chr3183417128183417325E06722666
chr3183352694183355307E068-39155
chr3183414926183416707E06820464
chr3183416717183416941E06822255
chr3183416947183417034E06822485
chr3183417128183417325E06822666
chr3183352694183355307E069-39155
chr3183414926183416707E06920464
chr3183416717183416941E06922255
chr3183416947183417034E06922485
chr3183417128183417325E06922666
chr3183352694183355307E070-39155
chr3183414926183416707E07020464
chr3183416717183416941E07022255
chr3183416947183417034E07022485
chr3183417128183417325E07022666
chr3183352694183355307E071-39155
chr3183414926183416707E07120464
chr3183416717183416941E07122255
chr3183416947183417034E07122485
chr3183417128183417325E07122666
chr3183352694183355307E072-39155
chr3183414926183416707E07220464
chr3183416717183416941E07222255
chr3183416947183417034E07222485
chr3183417128183417325E07222666
chr3183352694183355307E073-39155
chr3183414926183416707E07320464
chr3183416717183416941E07322255
chr3183416947183417034E07322485
chr3183417128183417325E07322666
chr3183352694183355307E074-39155
chr3183414926183416707E07420464
chr3183416717183416941E07422255
chr3183416947183417034E07422485
chr3183417128183417325E07422666
chr3183352694183355307E081-39155
chr3183414926183416707E08120464
chr3183416717183416941E08122255
chr3183416947183417034E08122485
chr3183417128183417325E08122666
chr3183352694183355307E082-39155
chr3183414926183416707E08220464
chr3183416717183416941E08222255
chr3183416947183417034E08222485
chr3183417128183417325E08222666