rs17498875

Homo sapiens
C>G / C>T
KLHL11 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0045 (1362/29994,GnomAD)
T=0041 (1198/29118,TOPMED)
C==0051 (672/13006,GO-ESP)
T=0030 (150/5008,1000G)
T=0067 (257/3854,ALSPAC)
T=0069 (257/3708,TWINSUK)
chr17:41853703 (GRCh38.p7) (17q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.41853703C>G
GRCh38.p7 chr 17NC_000017.11:g.41853703C>T
GRCh37.p13 chr 17 fix patch HG185_PATCHNW_003571052.1:g.140345C>G
GRCh37.p13 chr 17 fix patch HG185_PATCHNW_003571052.1:g.140345C>T
GRCh37.p13 chr 17NC_000017.10:g.40009955C>G
GRCh37.p13 chr 17NC_000017.10:g.40009955C>T

Gene: KLHL11, kelch like family member 11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KLHL11 transcriptNM_018143.2:c.N/A3 Prime UTR Variant
KLHL11 transcript variant X1XR_001752552.1:n....XR_001752552.1:n.2191G>CG>CNon Coding Transcript Variant
KLHL11 transcript variant X1XR_001752552.1:n....XR_001752552.1:n.2191G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.988T=0.012
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.934T=0.066
1000GenomesGlobalStudy-wide5008C=0.970T=0.030
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.933T=0.067
The Genome Aggregation DatabaseAfricanSub8732C=0.984T=0.016
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1616C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18506C=0.938T=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29994C=0.954T=0.045
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.958T=0.041
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.931T=0.069
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs174988750.0006alcohol dependence21314694

eQTL of rs17498875 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 rs17498875 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 )
chr173565551135655815E067-22896
chr173565586635656015E067-22696
chr173565604635656119E067-22592
chr173567959935679720E067888
chr173567980135680319E0671090
chr173569637135696520E06717660
chr173571449635714589E06735785
chr173572561435725845E06746903
chr173565551135655815E068-22896
chr173565586635656015E068-22696
chr173565604635656119E068-22592
chr173567959935679720E068888
chr173567980135680319E0681090
chr173565551135655815E069-22896
chr173565586635656015E069-22696
chr173565604635656119E069-22592
chr173567478835675010E069-3701
chr173567505835675142E069-3569
chr173567959935679720E069888
chr173567980135680319E0691090
chr173569637135696520E06917660
chr173571426835714394E06935557
chr173571449635714589E06935785
chr173565551135655815E070-22896
chr173565586635656015E070-22696
chr173565604635656119E070-22592
chr173565719135657344E070-21367
chr173565747335657590E070-21121
chr173565764135657984E070-20727
chr173565806035658182E070-20529
chr173565830535658639E070-20072
chr173567980135680319E0701090
chr173571449635714589E07035785
chr173565144835651630E071-27081
chr173565171235652171E071-26540
chr173565551135655815E071-22896
chr173565586635656015E071-22696
chr173565604635656119E071-22592
chr173565830535658639E071-20072
chr173567478835675010E071-3701
chr173567505835675142E071-3569
chr173567915835679292E071447
chr173567959935679720E071888
chr173567980135680319E0711090
chr173569637135696520E07117660
chr173571449635714589E07135785
chr173565551135655815E072-22896
chr173565586635656015E072-22696
chr173565604635656119E072-22592
chr173567959935679720E072888
chr173567980135680319E0721090
chr173567478835675010E073-3701
chr173567505835675142E073-3569
chr173565494235655037E074-23674
chr173565551135655815E074-22896
chr173565586635656015E074-22696
chr173565604635656119E074-22592
chr173565747335657590E074-21121
chr173567959935679720E074888
chr173567980135680319E0741090
chr173569637135696520E07417660
chr173565624335656978E081-21733
chr173565698535657081E081-21630
chr173565719135657344E081-21367
chr173565747335657590E081-21121
chr173565764135657984E081-20727
chr173567915835679292E081447
chr173567959935679720E081888
chr173567980135680319E0811090
chr173568076035680810E0812049
chr173571383135714031E08135120
chr173571426835714394E08135557
chr173571449635714589E08135785
chr173565586635656015E082-22696
chr173565604635656119E082-22592
chr173565698535657081E082-21630
chr173565719135657344E082-21367
chr173565747335657590E082-21121
chr173565764135657984E082-20727
chr173565806035658182E082-20529
chr173567915835679292E082447
chr173567959935679720E082888
chr173567980135680319E0821090










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173571496135717418E06736250
chr173571496135717418E06836250
chr173571496135717418E06936250
chr173571496135717418E07036250
chr173571496135717418E07136250
chr173571496135717418E07236250
chr173571496135717418E07336250
chr173571496135717418E07436250
chr173571496135717418E08136250
chr173571496135717418E08236250