rs58598658

Homo sapiens
dupA / dupAA
KLF12 : Intron Variant
Check p-value
Indel (Insertion and Deletion)
dupA=0451 (2257/5008,1000G)
(A) (
8==0474 (1827/3854,ALSPAC)
(A) (
8==0481 (1784/3708,TWINSUK)
chr13:73887726-73887733 (GRCh38.p7) (13q22.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
35 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.73887733dup
GRCh38.p7 chr 13NC_000013.11:g.73887732_73887733dup
GRCh37.p13 chr 13NC_000013.10:g.74461870dup
GRCh37.p13 chr 13NC_000013.10:g.74461869_74461870dup

Gene: KLF12, Kruppel-like factor 12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KLF12 transcriptNM_007249.4:c.N/AIntron Variant
KLF12 transcript variant X5XM_005266251.3:c.N/AIntron Variant
KLF12 transcript variant X1XM_011534907.2:c.N/AIntron Variant
KLF12 transcript variant X2XM_011534908.2:c.N/AIntron Variant
KLF12 transcript variant X4XM_011534909.2:c.N/AIntron Variant
KLF12 transcript variant X5XM_011534910.2:c.N/AIntron Variant
KLF12 transcript variant X7XM_011534911.2:c.N/AIntron Variant
KLF12 transcript variant X8XM_011534912.2:c.N/AIntron Variant
KLF12 transcript variant X6XM_017020384.1:c.N/AIntron Variant
KLF12 transcript variant X9XM_017020385.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322(A)8=0.387dupA=0.613
1000GenomesAmericanSub694(A)8=0.650dupA=0.350
1000GenomesEast AsianSub1008(A)8=0.629dupA=0.371
1000GenomesEuropeSub1006(A)8=0.501dupA=0.499
1000GenomesGlobalStudy-wide5008(A)8=0.549dupA=0.451
1000GenomesSouth AsianSub978(A)8=0.670dupA=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854(A)8=0.474dupA=0.526
UK 10K study - TwinsTWIN COHORTStudy-wide3708(A)8=0.481dupA=0.519
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs585986581E-06alcohol dependence29071344

eQTL of rs58598658 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 rs58598658 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 )
chr137449269774492757E06730827
chr137442308574423195E068-38675
chr137448696874487051E06825098
chr137448712274487799E06825252
chr137449230774492357E06830437
chr137449243574492489E06830565
chr137449269774492757E06830827
chr137441664174416811E070-45059
chr137441689874416997E070-44873
chr137444816174448490E070-13380
chr137444862074448873E070-12997
chr137445379974454038E070-7832
chr137445408774454182E070-7688
chr137447306274473102E07011192
chr137447310474473181E07011234
chr137444816174448490E071-13380
chr137444862074448873E071-12997
chr137448696874487051E07125098
chr137448712274487799E07125252
chr137448812574488223E07126255
chr137448838174488561E07126511
chr137448870774488878E07126837
chr137448812574488223E07226255
chr137448838174488561E07226511
chr137448712274487799E07325252
chr137449309174493140E07331221
chr137445423374454288E074-7582
chr137445439874454470E074-7400
chr137441205374412314E081-49556
chr137441238774412549E081-49321
chr137444816174448490E081-13380
chr137441205374412314E082-49556
chr137445715374457212E082-4658
chr137445733874457704E082-4166
chr137445778174457905E082-3965