rs594664

Homo sapiens
C>T
NKAIN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0391 (11694/29838,GnomAD)
T=0339 (9897/29118,TOPMED)
T=0337 (1688/5008,1000G)
T=0413 (1593/3854,ALSPAC)
T=0439 (1629/3708,TWINSUK)
chr6:124121141 (GRCh38.p7) (6q22.31)
ND
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.124121141C>T
GRCh37.p13 chr 6NC_000006.11:g.124442286C>T
NKAIN2 RefSeqGeneNG_021365.1:g.322218C>T

Gene: NKAIN2, Na+/K+ transporting ATPase interacting 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NKAIN2 transcript variant 1NM_001040214.2:c.N/AIntron Variant
NKAIN2 transcript variant 3NM_001300737.1:c.N/AIntron Variant
NKAIN2 transcript variant 4NM_001300738.1:c.N/AIntron Variant
NKAIN2 transcript variant 5NM_001300740.1:c.N/AIntron Variant
NKAIN2 transcript variant 2NM_153355.4:c.N/AIntron Variant
NKAIN2 transcript variant X1XM_011535501.2:c.N/AIntron Variant
NKAIN2 transcript variant X3XM_011535503.2:c.N/AIntron Variant
NKAIN2 transcript variant X4XM_017010318.1:c.N/AIntron Variant
NKAIN2 transcript variant X5XM_017010319.1:c.N/AIntron Variant
NKAIN2 transcript variant X2XM_011535502.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.728T=0.272
1000GenomesAmericanSub694C=0.740T=0.260
1000GenomesEast AsianSub1008C=0.711T=0.289
1000GenomesEuropeSub1006C=0.571T=0.429
1000GenomesGlobalStudy-wide5008C=0.663T=0.337
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.587T=0.413
The Genome Aggregation DatabaseAfricanSub8692C=0.707T=0.293
The Genome Aggregation DatabaseAmericanSub830C=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1602C=0.691T=0.309
The Genome Aggregation DatabaseEuropeSub18412C=0.546T=0.453
The Genome Aggregation DatabaseGlobalStudy-wide29838C=0.608T=0.391
The Genome Aggregation DatabaseOtherSub302C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.660T=0.339
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.561T=0.439
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs5946642.63E-05alcohol and nictotine co-dependence20158304

eQTL of rs594664 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 rs594664 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 )
chr6124480027124480165E07137741
chr6124480904124481099E07138618
chr6124461915124462021E07419629
chr6124462168124462395E07419882
chr6124395682124395732E081-46554
chr6124396969124397291E081-44995
chr6124397499124397575E081-44711
chr6124397626124397676E081-44610
chr6124397700124397750E081-44536
chr6124397850124398066E081-44220
chr6124398182124398365E081-43921
chr6124398670124398801E081-43485
chr6124440749124440831E081-1455
chr6124440855124441017E081-1269
chr6124441169124441236E081-1050
chr6124396969124397291E082-44995
chr6124397499124397575E082-44711
chr6124397626124397676E082-44610
chr6124397700124397750E082-44536
chr6124397850124398066E082-44220
chr6124398182124398365E082-43921
chr6124398670124398801E082-43485