rs12664298

Homo sapiens
G>A
UTRN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0028 (857/29992,GnomAD)
A=0034 (1002/29118,TOPMED)
A=0044 (221/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr6:144362485 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.144362485G>A
GRCh37.p13 chr 6NC_000006.11:g.144683621G>A
UTRN RefSeqGeneNG_042293.1:g.75749G>A

Gene: UTRN, utrophin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UTRN transcriptNM_007124.2:c.N/AIntron Variant
UTRN transcript variant X5XM_005267127.4:c.N/AIntron Variant
UTRN transcript variant X7XM_005267130.2:c.N/AIntron Variant
UTRN transcript variant X8XM_005267133.2:c.N/AIntron Variant
UTRN transcript variant X2XM_011536101.2:c.N/AIntron Variant
UTRN transcript variant X1XM_011536102.2:c.N/AIntron Variant
UTRN transcript variant X6XM_011536106.2:c.N/AIntron Variant
UTRN transcript variant X9XM_011536107.2:c.N/AIntron Variant
UTRN transcript variant X3XM_017011243.1:c.N/AIntron Variant
UTRN transcript variant X4XM_017011244.1:c.N/AIntron Variant
UTRN transcript variant X10XM_017011245.1:c.N/AIntron Variant
UTRN transcript variant X12XM_006715560.3:c.N/AGenic Upstream Transcript Variant
UTRN transcript variant X11XM_011536109.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.933A=0.067
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=0.901A=0.099
1000GenomesEuropeSub1006G=0.998A=0.002
1000GenomesGlobalStudy-wide5008G=0.956A=0.044
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8730G=0.936A=0.064
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1618G=0.875A=0.125
The Genome Aggregation DatabaseEuropeSub18504G=0.996A=0.003
The Genome Aggregation DatabaseGlobalStudy-wide29992G=0.971A=0.028
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.965A=0.034
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs126642980.000452alcohol dependence20201924

eQTL of rs12664298 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 rs12664298 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 )
chr6144634800144634914E068-48707
chr6144634923144635054E068-48567
chr6144635149144635646E068-47975
chr6144635849144635966E068-47655
chr6144636112144636323E068-47298
chr6144636381144636678E068-46943
chr6144647635144648710E068-34911
chr6144648717144648784E068-34837
chr6144648809144648863E068-34758
chr6144649077144649649E068-33972
chr6144650716144650902E068-32719
chr6144651008144651427E068-32194
chr6144651551144652236E068-31385
chr6144652277144652341E068-31280
chr6144652416144652600E068-31021
chr6144652605144653486E068-30135
chr6144661274144661444E068-22177
chr6144661469144661671E068-21950
chr6144662783144662840E068-20781
chr6144662890144663055E068-20566
chr6144663177144663237E068-20384
chr6144672217144672295E068-11326
chr6144683347144683405E068-216
chr6144683418144683832E0680
chr6144683851144683956E068230
chr6144698474144699353E06814853
chr6144634800144634914E069-48707
chr6144634923144635054E069-48567
chr6144635149144635646E069-47975
chr6144635849144635966E069-47655
chr6144636112144636323E069-47298
chr6144636381144636678E069-46943
chr6144636708144636773E069-46848
chr6144661274144661444E069-22177
chr6144661469144661671E069-21950
chr6144661721144662568E069-21053
chr6144662600144662745E069-20876
chr6144662783144662840E069-20781
chr6144662890144663055E069-20566
chr6144663177144663237E069-20384
chr6144663244144663342E069-20279
chr6144663387144663497E069-20124
chr6144641453144641612E070-42009
chr6144641743144641818E070-41803
chr6144641864144641998E070-41623
chr6144642036144642219E070-41402
chr6144644716144644798E070-38823
chr6144650716144650902E070-32719
chr6144651008144651427E070-32194
chr6144651551144652236E070-31385
chr6144652277144652341E070-31280
chr6144661274144661444E070-22177
chr6144661469144661671E070-21950
chr6144634800144634914E071-48707
chr6144634923144635054E071-48567
chr6144635149144635646E071-47975
chr6144635849144635966E071-47655
chr6144636112144636323E071-47298
chr6144636381144636678E071-46943
chr6144636708144636773E071-46848
chr6144636825144637214E071-46407
chr6144652605144653486E071-30135
chr6144656121144656233E071-27388
chr6144659626144659691E071-23930
chr6144659767144660097E071-23524
chr6144660190144660463E071-23158
chr6144667891144668901E071-14720
chr6144683203144683268E071-353
chr6144683347144683405E071-216
chr6144683418144683832E0710
chr6144683851144683956E071230
chr6144634357144634443E072-49178
chr6144634800144634914E072-48707
chr6144634923144635054E072-48567
chr6144675895144675979E072-7642
chr6144634357144634443E073-49178
chr6144634800144634914E073-48707
chr6144634923144635054E073-48567
chr6144635149144635646E073-47975
chr6144635849144635966E073-47655
chr6144636112144636323E073-47298
chr6144636381144636678E073-46943
chr6144636708144636773E073-46848
chr6144636825144637214E073-46407
chr6144643326144643755E073-39866
chr6144634800144634914E074-48707
chr6144634923144635054E074-48567
chr6144635149144635646E074-47975
chr6144635849144635966E074-47655
chr6144636112144636323E074-47298
chr6144636381144636678E074-46943
chr6144636708144636773E074-46848
chr6144662783144662840E074-20781
chr6144662890144663055E074-20566
chr6144663177144663237E074-20384
chr6144685848144685955E0742227
chr6144685990144686286E0742369
chr6144700093144700285E07416472
chr6144700468144700841E07416847
chr6144642331144642381E081-41240
chr6144651008144651427E081-32194
chr6144651551144652236E081-31385
chr6144652277144652341E081-31280
chr6144652416144652600E081-31021
chr6144652605144653486E081-30135
chr6144650716144650902E082-32719
chr6144651008144651427E082-32194