rs9362672

Homo sapiens
C>G
MDN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0310 (9293/29898,GnomAD)
C==0319 (9304/29118,TOPMED)
C==0281 (1407/5008,1000G)
C==0349 (1344/3854,ALSPAC)
C==0359 (1331/3708,TWINSUK)
chr6:89696274 (GRCh38.p7) (6q15)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.89696274C>G
GRCh37.p13 chr 6NC_000006.11:g.90405993C>G
MDN1 RefSeqGeneNG_034012.1:g.128521G>C

Gene: MDN1, midasin AAA ATPase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MDN1 transcriptNM_014611.2:c.N/AIntron Variant
MDN1 transcript variant X5XM_005248700.3:c.N/AIntron Variant
MDN1 transcript variant X4XM_006715405.3:c.N/AIntron Variant
MDN1 transcript variant X1XM_011535635.2:c.N/AIntron Variant
MDN1 transcript variant X2XM_011535636.2:c.N/AIntron Variant
MDN1 transcript variant X3XR_001743283.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.308G=0.692
1000GenomesAmericanSub694C=0.220G=0.780
1000GenomesEast AsianSub1008C=0.085G=0.915
1000GenomesEuropeSub1006C=0.347G=0.653
1000GenomesGlobalStudy-wide5008C=0.281G=0.719
1000GenomesSouth AsianSub978C=0.420G=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.349G=0.651
The Genome Aggregation DatabaseAfricanSub8680C=0.309G=0.691
The Genome Aggregation DatabaseAmericanSub838C=0.240G=0.760
The Genome Aggregation DatabaseEast AsianSub1618C=0.111G=0.889
The Genome Aggregation DatabaseEuropeSub18460C=0.331G=0.668
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.310G=0.689
The Genome Aggregation DatabaseOtherSub302C=0.380G=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.319G=0.680
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.359G=0.641
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
rs93626720.000737alcohol dependence21314694

eQTL of rs9362672 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 rs9362672 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 )
chr69040012690400176E067-5817
chr69040034190401012E067-4981
chr69038954690389649E068-16344
chr69038969190389741E068-16252
chr69038991690389960E068-16033
chr69039003590390147E068-15846
chr69039035690390522E068-15471
chr69039886190399100E068-6893
chr69040012690400176E068-5817
chr69040034190401012E068-4981
chr69040012690400176E069-5817
chr69040034190401012E069-4981
chr69040012690400176E071-5817
chr69040034190401012E071-4981
chr69040012690400176E072-5817
chr69040034190401012E072-4981
chr69040012690400176E073-5817
chr69040034190401012E073-4981
chr69039886190399100E074-6893
chr69040034190401012E074-4981
chr69038534290385497E081-20496
chr69038554790385652E081-20341
chr69038573490386021E081-19972
chr69038605190386304E081-19689
chr69038534290385497E082-20496
chr69038554790385652E082-20341
chr69038573490386021E082-19972
chr69038605190386304E082-19689
chr69038632990386414E082-19579









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr69039938690399798E067-6195
chr69039938690399798E068-6195
chr69039938690399798E069-6195
chr69039938690399798E071-6195
chr69039938690399798E072-6195
chr69039938690399798E073-6195
chr69039938690399798E074-6195