rs12261547

Homo sapiens
G>C
IPMK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0044 (1318/29956,GnomAD)
C=0029 (854/29118,TOPMED)
C=0065 (328/5008,1000G)
C=0037 (142/3854,ALSPAC)
C=0045 (166/3708,TWINSUK)
chr10:58209350 (GRCh38.p7) (10q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.58209350G>C
GRCh37.p13 chr 10NC_000010.10:g.59969111G>C

Gene: IPMK, inositol polyphosphate multikinase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IPMK transcriptNM_152230.4:c.N/AIntron Variant
IPMK transcript variant X1XM_011539565.2:c.N/AIntron Variant
IPMK transcript variant X2XM_017016013.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.986C=0.014
1000GenomesAmericanSub694G=0.970C=0.030
1000GenomesEast AsianSub1008G=0.851C=0.149
1000GenomesEuropeSub1006G=0.954C=0.046
1000GenomesGlobalStudy-wide5008G=0.935C=0.065
1000GenomesSouth AsianSub978G=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.963C=0.037
The Genome Aggregation DatabaseAfricanSub8716G=0.979C=0.021
The Genome Aggregation DatabaseAmericanSub838G=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1616G=0.844C=0.156
The Genome Aggregation DatabaseEuropeSub18484G=0.954C=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.956C=0.044
The Genome Aggregation DatabaseOtherSub302G=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.970C=0.029
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.955C=0.045
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
rs122615470.000205alcohol dependence21314694

eQTL of rs12261547 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 rs12261547 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 )
chr105999916359999333E06830052
chr105993848059939107E070-30004
chr105993913559939321E070-29790
chr105993964559939782E070-29329