rs2044590

Homo sapiens
G>A / G>C
MORC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0380 (44933/118136,ExAC)
C=0413 (12362/29908,GnomAD)
C=0461 (13424/29118,TOPMED)
G==0457 (5956/13006,GO-ESP)
C=0360 (1803/5008,1000G)
C=0407 (1570/3854,ALSPAC)
C=0426 (1581/3708,TWINSUK)
chr3:109007137 (GRCh38.p7) (3q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.109007137G>A
GRCh38.p7 chr 3NC_000003.12:g.109007137G>C
GRCh37.p13 chr 3NC_000003.11:g.108725984G>A
GRCh37.p13 chr 3NC_000003.11:g.108725984G>C

Gene: MORC1, MORC family CW-type zinc finger 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MORC1 transcriptNM_014429.3:c.N/AIntron Variant
MORC1 transcript variant X2XM_005247362.2:c.N/AIntron Variant
MORC1 transcript variant X1XM_011512691.1:c.N/AIntron Variant
MORC1 transcript variant X3XM_011512692.1:c.N/AIntron Variant
MORC1 transcript variant X5XM_011512693.1:c.N/AIntron Variant
MORC1 transcript variant X6XM_011512694.1:c.N/AIntron Variant
MORC1 transcript variant X7XM_011512696.2:c.N/AIntron Variant
MORC1 transcript variant X8XM_011512697.2:c.N/AIntron Variant
MORC1 transcript variant X4XM_017006169.1:c.N/AIntron Variant
MORC1 transcript variant X9XM_017006170.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.486C=0.514
1000GenomesAmericanSub694G=0.710C=0.290
1000GenomesEast AsianSub1008G=0.891C=0.109
1000GenomesEuropeSub1006G=0.568C=0.432
1000GenomesGlobalStudy-wide5008G=0.640C=0.360
1000GenomesSouth AsianSub978G=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.593C=0.407
The Exome Aggregation ConsortiumAmericanSub21736G=0.643C=0.356
The Exome Aggregation ConsortiumAsianSub23378G=0.720C=0.279
The Exome Aggregation ConsortiumEuropeSub72142G=0.579C=0.420
The Exome Aggregation ConsortiumGlobalStudy-wide118136G=0.619C=0.380
The Exome Aggregation ConsortiumOtherSub880G=0.620C=0.380
The Genome Aggregation DatabaseAfricanSub8696G=0.482C=0.518
The Genome Aggregation DatabaseAmericanSub838G=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1618G=0.912C=0.088
The Genome Aggregation DatabaseEuropeSub18456G=0.601C=0.398
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.586C=0.413
The Genome Aggregation DatabaseOtherSub300G=0.490C=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.539C=0.461
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.574C=0.426
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
rs20445900.000933alcohol dependence21314694

eQTL of rs2044590 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 rs2044590 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 )
chr350292665029435E067-44903
chr350268345029224E068-45114
chr350292665029435E068-44903
chr350294475029606E068-44732
chr350266925026741E069-47597
chr350268345029224E069-45114
chr350989795099041E06924641
chr350990965099402E06924758
chr351001695100583E07025831
chr351005875100679E07026249
chr351008015100860E07026463
chr351015475101718E07027209
chr350292665029435E071-44903
chr350294475029606E071-44732
chr350297055029830E071-44508
chr350299495030134E071-44204
chr350303235030431E071-43907
chr350304735031464E071-42874
chr350525005052980E071-21358
chr350594855060194E071-14144
chr350602735060323E071-14015
chr350691095069196E071-5142
chr350594855060194E072-14144
chr350266925026741E073-47597
chr350268345029224E073-45114
chr350292665029435E073-44903
chr350364205037626E073-36712
chr350266925026741E074-47597
chr350268345029224E074-45114
chr350292665029435E074-44903
chr350602735060323E074-14015
chr350989795099041E08124641
chr350990965099402E08124758









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr350677355068873E068-5465
chr350677355068873E069-5465
chr350677355068873E072-5465
chr350677355068873E073-5465
chr350677355068873E074-5465
chr350677355068873E082-5465