rs2281760

Homo sapiens
A>C
GMDS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0467 (14017/29962,GnomAD)
C=0391 (11395/29118,TOPMED)
C=0311 (1555/5008,1000G)
A==0374 (1443/3854,ALSPAC)
A==0369 (1370/3708,TWINSUK)
chr6:1866292 (GRCh38.p7) (6p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
121 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.1866292A>C
GRCh37.p13 chr 6NC_000006.11:g.1866526A>C

Gene: GMDS, GDP-mannose 4,6-dehydratase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GMDS transcript variant 2NM_001253846.1:c.N/AIntron Variant
GMDS transcript variant 1NM_001500.3:c.N/AIntron Variant
GMDS transcript variant X1XM_011514500.1:c.N/AIntron Variant
GMDS transcript variant X3XM_011514502.2:c.N/AIntron Variant
GMDS transcript variant X10XM_011514507.1:c.N/AIntron Variant
GMDS transcript variant X6XM_017010752.1:c.N/AIntron Variant
GMDS transcript variant X4XM_006715066.2:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X7XM_011514503.2:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X8XM_011514505.1:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X9XM_011514506.1:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X2XR_001743349.1:n.N/AIntron Variant
GMDS transcript variant X5XR_001743350.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.921C=0.079
1000GenomesAmericanSub694A=0.490C=0.510
1000GenomesEast AsianSub1008A=0.871C=0.129
1000GenomesEuropeSub1006A=0.379C=0.621
1000GenomesGlobalStudy-wide5008A=0.689C=0.311
1000GenomesSouth AsianSub978A=0.650C=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.374C=0.626
The Genome Aggregation DatabaseAfricanSub8720A=0.851C=0.149
The Genome Aggregation DatabaseAmericanSub838A=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1622A=0.883C=0.117
The Genome Aggregation DatabaseEuropeSub18480A=0.354C=0.645
The Genome Aggregation DatabaseGlobalStudy-wide29962A=0.532C=0.467
The Genome Aggregation DatabaseOtherSub302A=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.608C=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.369C=0.631
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
rs22817600.000928alcohol dependence20201924

eQTL of rs2281760 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 rs2281760 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 )
chr618562371856309E067-10217
chr618563531856414E067-10112
chr618566691856892E067-9634
chr618659301866095E067-431
chr618662641866412E067-114
chr618723181872517E0675792
chr618726921873351E0676166
chr618734971873621E0676971
chr619156541915779E06749128
chr619159041915968E06749378
chr619163881916442E06749862
chr618327741832874E068-33652
chr618329491833020E068-33506
chr618379861838073E068-28453
chr618382411838398E068-28128
chr618384861838560E068-27966
chr618562371856309E068-10217
chr618563531856414E068-10112
chr618566691856892E068-9634
chr618723181872517E0685792
chr618726921873351E0686166
chr618734971873621E0686971
chr618736841873751E0687158
chr619163881916442E06849862
chr618563531856414E069-10112
chr618566691856892E069-9634
chr618662641866412E069-114
chr618726921873351E0696166
chr618734971873621E0696971
chr618736841873751E0697158
chr619159041915968E06949378
chr619163881916442E06949862
chr618327741832874E070-33652
chr618329491833020E070-33506
chr618330351833355E070-33171
chr618333611833702E070-32824
chr618338291833960E070-32566
chr618379861838073E070-28453
chr618382411838398E070-28128
chr618384861838560E070-27966
chr618389081838991E070-27535
chr618390351839216E070-27310
chr618392661839369E070-27157
chr618394071839470E070-27056
chr618399041839993E070-26533
chr618400531840113E070-26413
chr618501011850243E070-16283
chr618503591850788E070-15738
chr618548681854989E070-11537
chr618556271855690E070-10836
chr618562371856309E070-10217
chr618563531856414E070-10112
chr618566691856892E070-9634
chr618571951857245E070-9281
chr618718961872234E0705370
chr618723181872517E0705792
chr618726921873351E0706166
chr619156541915779E07049128
chr619159041915968E07049378
chr619163881916442E07049862
chr618566691856892E071-9634
chr618659301866095E071-431
chr618662641866412E071-114
chr618718961872234E0715370
chr618726921873351E0716166
chr618734971873621E0716971
chr618736841873751E0717158
chr619163881916442E07149862
chr618218761822647E072-43879
chr618327741832874E072-33652
chr618329491833020E072-33506
chr618330351833355E072-33171
chr618333611833702E072-32824
chr618562371856309E072-10217
chr618563531856414E072-10112
chr618566691856892E072-9634
chr618723181872517E0725792
chr618726921873351E0726166
chr618734971873621E0726971
chr618736841873751E0727158
chr618739691874316E0727443
chr618771461877229E07210620
chr619156541915779E07249128
chr619159041915968E07249378
chr619163881916442E07249862
chr618325381832610E073-33916
chr618327741832874E073-33652
chr618718961872234E0735370
chr618723181872517E0735792
chr618726921873351E0736166
chr618734971873621E0736971
chr618736841873751E0737158
chr618739691874316E0737443
chr618327741832874E074-33652
chr618329491833020E074-33506
chr618330351833355E074-33171
chr618563531856414E074-10112
chr618566691856892E074-9634
chr618726921873351E0746166
chr618734971873621E0746971
chr619156541915779E07449128
chr619159041915968E07449378
chr619163881916442E07449862
chr618329491833020E081-33506
chr618330351833355E081-33171
chr618333611833702E081-32824
chr618379861838073E081-28453
chr618382411838398E081-28128
chr618384861838560E081-27966
chr618723181872517E0815792
chr618726921873351E0816166
chr618734971873621E0816971
chr618379861838073E082-28453
chr618382411838398E082-28128
chr618384861838560E082-27966
chr618503591850788E082-15738
chr618509331851027E082-15499
chr618520101852194E082-14332
chr618523241852495E082-14031
chr618562371856309E082-10217
chr618726921873351E0826166