rs9318238

Homo sapiens
T>C
KLF12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0339 (10158/29946,GnomAD)
T==0412 (12022/29118,TOPMED)
T==0343 (1720/5008,1000G)
T==0246 (948/3854,ALSPAC)
T==0230 (851/3708,TWINSUK)
chr13:73963883 (GRCh38.p7) (13q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
55 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.73963883T>C
GRCh37.p13 chr 13NC_000013.10:g.74538020T>C

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 X8XM_011534912.2:c.N/AIntron Variant
KLF12 transcript variant X5XM_011534910.2:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X7XM_011534911.2:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X6XM_017020384.1:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X9XM_017020385.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.597C=0.403
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.173C=0.827
1000GenomesEuropeSub1006T=0.240C=0.760
1000GenomesGlobalStudy-wide5008T=0.343C=0.657
1000GenomesSouth AsianSub978T=0.200C=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.246C=0.754
The Genome Aggregation DatabaseAfricanSub8714T=0.581C=0.419
The Genome Aggregation DatabaseAmericanSub834T=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1612T=0.204C=0.796
The Genome Aggregation DatabaseEuropeSub18484T=0.232C=0.767
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.339C=0.660
The Genome Aggregation DatabaseOtherSub302T=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.412C=0.587
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.230C=0.770
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs93182380.000425alcohol dependence20201924

eQTL of rs9318238 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 rs9318238 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 )
chr137449269774492757E067-45263
chr137454480074545015E0676780
chr137454518674545406E0677166
chr137454547374545530E0677453
chr137454561474545664E0677594
chr137454582174545871E0677801
chr137449230774492357E068-45663
chr137449243574492489E068-45531
chr137449269774492757E068-45263
chr137451990174520542E070-17478
chr137452055674520628E070-17392
chr137452301074523060E070-14960
chr137452307074523174E070-14846
chr137452319774523251E070-14769
chr137452440474524476E070-13544
chr137453909074539140E0701070
chr137453921574539265E0701195
chr137453963974539744E0701619
chr137454026474540308E0702244
chr137454044474540514E0702424
chr137454057874540824E0702558
chr137456615974566343E07028139
chr137456642774566516E07028407
chr137456673774566821E07028717
chr137457123674571327E07033216
chr137457174374572002E07033723
chr137457204774572511E07034027
chr137457270474572878E07034684
chr137457305774573134E07035037
chr137457485174575443E07036831
chr137457546274575683E07037442
chr137457570274575792E07037682
chr137448812574488223E071-49797
chr137448838174488561E071-49459
chr137448870774488878E071-49142
chr137448812574488223E072-49797
chr137448838174488561E072-49459
chr137449309174493140E073-44880
chr137451990174520542E073-17478
chr137453578574535878E073-2142
chr137453656174536656E073-1364
chr137454742074547546E0739400
chr137454763374547693E0739613
chr137454773174547781E0739711
chr137454782174547871E0739801
chr137454799974548136E0739979
chr137457485174575443E08136831
chr137457546274575683E08137442
chr137451990174520542E082-17478
chr137452055674520628E082-17392
chr137457485174575443E08236831
chr137457546274575683E08237442
chr137457570274575792E08237682
chr137457584074575931E08237820
chr137457603074576080E08238010