rs9318232

Homo sapiens
T>C
KLF12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0334 (10020/29960,GnomAD)
T==0406 (11847/29118,TOPMED)
T==0338 (1693/5008,1000G)
T==0246 (948/3854,ALSPAC)
T==0230 (853/3708,TWINSUK)
chr13:73956142 (GRCh38.p7) (13q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.73956142T>C
GRCh37.p13 chr 13NC_000013.10:g.74530279T>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=0.583C=0.417
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.170C=0.830
1000GenomesEuropeSub1006T=0.240C=0.760
1000GenomesGlobalStudy-wide5008T=0.338C=0.662
1000GenomesSouth AsianSub978T=0.190C=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.246C=0.754
The Genome Aggregation DatabaseAfricanSub8708T=0.568C=0.432
The Genome Aggregation DatabaseAmericanSub838T=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1616T=0.190C=0.810
The Genome Aggregation DatabaseEuropeSub18496T=0.232C=0.768
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.334C=0.665
The Genome Aggregation DatabaseOtherSub302T=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.406C=0.593
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
rs93182320.000158alcohol dependence20201924

eQTL of rs9318232 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 rs9318232 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 )
chr137449269774492757E067-37522
chr137454480074545015E06714521
chr137454518674545406E06714907
chr137454547374545530E06715194
chr137454561474545664E06715335
chr137454582174545871E06715542
chr137448696874487051E068-43228
chr137448712274487799E068-42480
chr137449230774492357E068-37922
chr137449243574492489E068-37790
chr137449269774492757E068-37522
chr137451990174520542E070-9737
chr137452055674520628E070-9651
chr137452301074523060E070-7219
chr137452307074523174E070-7105
chr137452319774523251E070-7028
chr137452440474524476E070-5803
chr137453909074539140E0708811
chr137453921574539265E0708936
chr137453963974539744E0709360
chr137454026474540308E0709985
chr137454044474540514E07010165
chr137454057874540824E07010299
chr137456615974566343E07035880
chr137456642774566516E07036148
chr137456673774566821E07036458
chr137457123674571327E07040957
chr137457174374572002E07041464
chr137457204774572511E07041768
chr137457270474572878E07042425
chr137457305774573134E07042778
chr137457485174575443E07044572
chr137457546274575683E07045183
chr137457570274575792E07045423
chr137448696874487051E071-43228
chr137448712274487799E071-42480
chr137448812574488223E071-42056
chr137448838174488561E071-41718
chr137448870774488878E071-41401
chr137448812574488223E072-42056
chr137448838174488561E072-41718
chr137448712274487799E073-42480
chr137449309174493140E073-37139
chr137451990174520542E073-9737
chr137453578574535878E0735506
chr137453656174536656E0736282
chr137454742074547546E07317141
chr137454763374547693E07317354
chr137454773174547781E07317452
chr137454782174547871E07317542
chr137454799974548136E07317720
chr137457485174575443E08144572
chr137457546274575683E08145183
chr137451990174520542E082-9737
chr137452055674520628E082-9651
chr137457485174575443E08244572
chr137457546274575683E08245183
chr137457570274575792E08245423
chr137457584074575931E08245561
chr137457603074576080E08245751