rs2014712

Homo sapiens
C>G / C>T
KCNK9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0214 (6433/29942,GnomAD)
T=0223 (1115/5008,1000G)
T=0260 (1001/3854,ALSPAC)
T=0233 (863/3708,TWINSUK)
chr8:139628391 (GRCh38.p7) (8q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
93 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.139628391C>G
GRCh38.p7 chr 8NC_000008.11:g.139628391C>T
GRCh37.p13 chr 8NC_000008.10:g.140640634C>G
GRCh37.p13 chr 8NC_000008.10:g.140640634C>T
KCNK9 RefSeqGeneNG_012842.2:g.79666G>C
KCNK9 RefSeqGeneNG_012842.2:g.79666G>A

Gene: KCNK9, potassium two pore domain channel subfamily K member 9(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNK9 transcript variant 1NM_001282534.1:c.N/AIntron Variant
KCNK9 transcript variant 2NR_104210.1:n.N/AIntron Variant
KCNK9 transcript variant X1XM_011517101.2:c.N/AIntron Variant
KCNK9 transcript variant X2XM_011517102.2:c.N/AIntron Variant
KCNK9 transcript variant X3XM_011517103.2:c.N/AIntron Variant
KCNK9 transcript variant X4XM_017013530.1:c.N/AIntron Variant
KCNK9 transcript variant X5XM_017013531.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.899T=0.101
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.712T=0.288
1000GenomesEuropeSub1006C=0.730T=0.270
1000GenomesGlobalStudy-wide5008C=0.777T=0.223
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.740T=0.260
The Genome Aggregation DatabaseAfricanSub8722C=0.880T=0.120
The Genome Aggregation DatabaseAmericanSub838C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1618C=0.706T=0.294
The Genome Aggregation DatabaseEuropeSub18462C=0.745T=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.785T=0.214
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.767T=0.233
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
rs20147120.00084alcohol dependence21314694

eQTL of rs2014712 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 rs2014712 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 )
chr82005782820057969E06730190
chr82005809520058230E06730457
chr82005827920058696E06730641
chr82005871920058896E06731081
chr82005919820059248E06731560
chr82005940120059691E06731763
chr82005971220059859E06732074
chr82005997920060222E06732341
chr82006051420060558E06732876
chr82006062020060739E06732982
chr82006079320061054E06733155
chr82004606020046167E06818422
chr82005809520058230E06830457
chr82005827920058696E06830641
chr82005919820059248E06831560
chr82005940120059691E06831763
chr82005971220059859E06832074
chr82005997920060222E06832341
chr82006051420060558E06832876
chr82006062020060739E06832982
chr82006079320061054E06833155
chr82006120520061276E06833567
chr82006133520061542E06833697
chr82006159620061777E06833958
chr82005940120059691E06931763
chr82005971220059859E06932074
chr82005997920060222E06932341
chr82006051420060558E06932876
chr82006062020060739E06932982
chr82006079320061054E06933155
chr82006120520061276E06933567
chr82006133520061542E06933697
chr82006159620061777E06933958
chr81998355519984006E070-43632
chr82005919820059248E07031560
chr82005940120059691E07031763
chr82005971220059859E07032074
chr82005997920060222E07032341
chr82006051420060558E07032876
chr82006062020060739E07032982
chr82006079320061054E07033155
chr82005782820057969E07130190
chr82005809520058230E07130457
chr82005827920058696E07130641
chr82005871920058896E07131081
chr82005919820059248E07131560
chr82005940120059691E07131763
chr82005971220059859E07132074
chr82005997920060222E07132341
chr82006051420060558E07132876
chr82006062020060739E07132982
chr82006079320061054E07133155
chr82006120520061276E07133567
chr82006133520061542E07133697
chr82006159620061777E07133958
chr82005940120059691E07231763
chr82005971220059859E07232074
chr82005997920060222E07232341
chr82006051420060558E07232876
chr82006062020060739E07232982
chr82006079320061054E07233155
chr82006120520061276E07233567
chr82006133520061542E07233697
chr82005871920058896E07331081
chr82005919820059248E07331560
chr82005940120059691E07331763
chr82006051420060558E07432876
chr82006062020060739E07432982
chr82006079320061054E07433155
chr82006120520061276E07433567
chr82006133520061542E07433697
chr82006159620061777E07433958
chr82002917920029280E0811541
chr82002930920029683E0811671
chr82002998320030033E0812345
chr82005717820057396E08129540
chr82005747320057523E08129835
chr82005759620057646E08129958
chr82005940120059691E08131763
chr82005971220059859E08132074
chr82005997920060222E08132341
chr82006051420060558E08132876
chr82006062020060739E08132982
chr82006079320061054E08133155
chr82000204620002098E082-25540
chr82000217320002446E082-25192
chr82000277320003080E082-24558
chr82000310920003383E082-24255
chr82005827920058696E08230641
chr82005871920058896E08231081
chr82006051420060558E08232876
chr82006062020060739E08232982
chr82006079320061054E08233155










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82005418020056434E06726542
chr82005418020056434E06826542
chr82005418020056434E06926542
chr82005418020056434E07026542
chr82005418020056434E07126542
chr82005418020056434E07226542
chr82005418020056434E07326542
chr82005418020056434E07426542
chr82005418020056434E08126542
chr82005418020056434E08226542