rs2252790

Homo sapiens
G>A
DSE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0232 (6934/29882,GnomAD)
G==0228 (6656/29118,TOPMED)
G==0122 (612/5008,1000G)
G==0365 (1408/3854,ALSPAC)
G==0363 (1347/3708,TWINSUK)
chr6:116342160 (GRCh38.p7) (6q22.1)
AD
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.116342160G>A
GRCh37.p13 chr 6NC_000006.11:g.116663323G>A
DSE RefSeqGeneNG_033266.2:g.93009G>A

Gene: DSE, dermatan sulfate epimerase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DSE transcript variant 2NM_001080976.2:c.N/AIntron Variant
DSE transcript variant 3NM_001322937.1:c.N/AIntron Variant
DSE transcript variant 4NM_001322938.1:c.N/AIntron Variant
DSE transcript variant 6NM_001322940.1:c.N/AIntron Variant
DSE transcript variant 5NM_001322939.1:c.N/AGenic Upstream Transcript Variant
DSE transcript variant 7NM_001322941.1:c.N/AGenic Upstream Transcript Variant
DSE transcript variant 9NM_001322943.1:c.N/AGenic Upstream Transcript Variant
DSE transcript variant 8NM_001322944.1:c.N/AGenic Upstream Transcript Variant
DSE transcript variant 1NM_013352.3:c.N/AGenic Upstream Transcript Variant
DSE transcript variant 11NR_136521.1:n.N/AIntron Variant
DSE transcript variant 12NR_136522.1:n.N/AIntron Variant
DSE transcript variant 13NR_136523.1:n.N/AIntron Variant
DSE transcript variant 14NR_136524.1:n.N/AIntron Variant
DSE transcript variant 10NR_136520.1:n.N/AGenic Downstream Transcript Variant
DSE transcript variant X1XM_017010795.1:c.N/AIntron Variant
DSE transcript variant X2XM_017010796.1:c.N/AGenic Upstream Transcript Variant
DSE transcript variant X3XM_017010797.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.056A=0.944
1000GenomesAmericanSub694G=0.220A=0.780
1000GenomesEast AsianSub1008G=0.002A=0.998
1000GenomesEuropeSub1006G=0.340A=0.660
1000GenomesGlobalStudy-wide5008G=0.122A=0.878
1000GenomesSouth AsianSub978G=0.040A=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.365A=0.635
The Genome Aggregation DatabaseAfricanSub8712G=0.091A=0.909
The Genome Aggregation DatabaseAmericanSub838G=0.210A=0.790
The Genome Aggregation DatabaseEast AsianSub1622G=0.004A=0.996
The Genome Aggregation DatabaseEuropeSub18410G=0.319A=0.680
The Genome Aggregation DatabaseGlobalStudy-wide29882G=0.232A=0.768
The Genome Aggregation DatabaseOtherSub300G=0.280A=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.228A=0.771
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.363A=0.637
PMID Title Author Journal
28040410A genome wide association study of fast beta EEG in families of European ancestry.Meyers JLInt J Psychophysiol

P-Value

SNP ID p-value Traits Study
rs22527903E-08alcohol dependence28040410

eQTL of rs2252790 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 rs2252790 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 )
chr6116647482116647595E067-15728
chr6116647687116647861E067-15462
chr6116648061116648419E067-14904
chr6116648481116648674E067-14649
chr6116621061116621111E068-42212
chr6116621185116621240E068-42083
chr6116647687116647861E068-15462
chr6116648061116648419E068-14904
chr6116648481116648674E068-14649
chr6116649025116649433E068-13890
chr6116649521116649686E068-13637
chr6116649732116650044E068-13279
chr6116650098116650542E068-12781
chr6116671883116671973E0688560
chr6116673492116673536E06810169
chr6116688372116688488E06825049
chr6116621923116622044E069-41279
chr6116647687116647861E069-15462
chr6116648061116648419E069-14904
chr6116648481116648674E069-14649
chr6116634260116634310E071-29013
chr6116634340116634458E071-28865
chr6116638291116638619E071-24704
chr6116647482116647595E071-15728
chr6116647687116647861E071-15462
chr6116648061116648419E071-14904
chr6116648481116648674E071-14649
chr6116649521116649686E071-13637
chr6116670434116670651E0717111
chr6116673651116674468E07110328
chr6116690734116691109E07127411
chr6116703064116703144E07139741
chr6116707164116707329E07143841
chr6116707496116707546E07144173
chr6116636189116636400E072-26923
chr6116638291116638619E072-24704
chr6116647482116647595E072-15728
chr6116647687116647861E072-15462
chr6116690734116691109E07327411
chr6116638291116638619E074-24704
chr6116647482116647595E074-15728
chr6116647687116647861E074-15462
chr6116648061116648419E074-14904
chr6116648481116648674E074-14649
chr6116649025116649433E074-13890
chr6116673492116673536E07410169
chr6116673651116674468E07410328







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6116691133116693165E06727810
chr6116691133116693165E06827810
chr6116691133116693165E06927810
chr6116691133116693165E07027810
chr6116691133116693165E07127810
chr6116693215116693317E07129892
chr6116693594116693655E07130271
chr6116691133116693165E07227810
chr6116691133116693165E07327810
chr6116691133116693165E07427810
chr6116691133116693165E08227810