rs1489430

Homo sapiens
T>C
TMEM132C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0458 (13595/29668,GnomAD)
T==0447 (13019/29118,TOPMED)
T==0468 (2345/5008,1000G)
T==0473 (1823/3854,ALSPAC)
T==0474 (1758/3708,TWINSUK)
chr12:128681600 (GRCh38.p7) (12q24.32)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.128681600T>C
GRCh37.p13 chr 12NC_000012.11:g.129166145T>C

Gene: TMEM132C, transmembrane protein 132C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM132C transcriptNM_001136103.2:c.N/AIntron Variant
TMEM132C transcript variant X1XM_011538998.2:c.N/AIntron Variant
TMEM132C transcript variant X2XR_001748922.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.385C=0.615
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.476C=0.524
1000GenomesEuropeSub1006T=0.468C=0.532
1000GenomesGlobalStudy-wide5008T=0.468C=0.532
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.473C=0.527
The Genome Aggregation DatabaseAfricanSub8648T=0.409C=0.591
The Genome Aggregation DatabaseAmericanSub822T=0.470C=0.530
The Genome Aggregation DatabaseEast AsianSub1606T=0.489C=0.511
The Genome Aggregation DatabaseEuropeSub18290T=0.477C=0.522
The Genome Aggregation DatabaseGlobalStudy-wide29668T=0.458C=0.541
The Genome Aggregation DatabaseOtherSub302T=0.470C=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.447C=0.552
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.474C=0.526
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
rs14894300.0000509alcoholismpha002893
rs14894300.000051alcohol dependence20201924
rs14894300.00019alcohol dependence(early age of onset)20201924

eQTL of rs1489430 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 rs1489430 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 )
chr12129136834129136874E067-29271
chr12129169006129169234E0672861
chr12129169242129169363E0673097
chr12129169485129169535E0673340
chr12129176616129176696E06710471
chr12129176885129176945E06710740
chr12129199266129199327E06733121
chr12129169006129169234E0682861
chr12129169242129169363E0683097
chr12129169485129169535E0683340
chr12129169673129169723E0683528
chr12129127406129127495E069-38650
chr12129127653129127861E069-38284
chr12129127892129128114E069-38031
chr12129136834129136874E069-29271
chr12129138683129138754E069-27391
chr12129138761129138821E069-27324
chr12129139125129139282E069-26863
chr12129145681129146264E069-19881
chr12129169006129169234E0692861
chr12129169242129169363E0693097
chr12129169485129169535E0693340
chr12129169673129169723E0693528
chr12129175392129175442E0699247
chr12129136834129136874E070-29271
chr12129138761129138821E070-27324
chr12129139125129139282E070-26863
chr12129144617129144691E070-21454
chr12129144929129145350E070-20795
chr12129145681129146264E070-19881
chr12129146497129146687E070-19458
chr12129146715129146969E070-19176
chr12129147088129147275E070-18870
chr12129127406129127495E071-38650
chr12129127892129128114E071-38031
chr12129134540129134618E071-31527
chr12129134677129134726E071-31419
chr12129137551129137601E071-28544
chr12129137796129137874E071-28271
chr12129137897129137947E071-28198
chr12129138155129138249E071-27896
chr12129169006129169234E0712861
chr12129169242129169363E0713097
chr12129169485129169535E0713340
chr12129169673129169723E0713528
chr12129200078129200279E07133933
chr12129136834129136874E072-29271
chr12129137551129137601E072-28544
chr12129138761129138821E072-27324
chr12129169006129169234E0722861
chr12129169242129169363E0723097
chr12129169006129169234E0732861
chr12129169242129169363E0733097
chr12129169485129169535E0733340
chr12129172475129172620E0736330
chr12129172745129172795E0736600
chr12129169006129169234E0742861
chr12129169242129169363E0743097
chr12129169485129169535E0743340
chr12129127892129128114E081-38031
chr12129145681129146264E081-19881
chr12129169006129169234E0812861
chr12129183532129183605E08117387