rs8294

Homo sapiens
C>T
PGM1 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0198 (23870/120016,ExAC)
T=0173 (5193/29952,GnomAD)
T=0153 (4470/29118,TOPMED)
C==0149 (1950/13006,GO-ESP)
T=0185 (924/5008,1000G)
T=0184 (710/3854,ALSPAC)
T=0178 (661/3708,TWINSUK)
chr1:63659697 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
73 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.63659697C>T
GRCh37.p13 chr 1NC_000001.10:g.64125368C>T
PGM1 RefSeqGeneNG_016966.1:g.71422C>T

Gene: PGM1, phosphoglucomutase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PGM1 transcript variant 1NM_002633.2:c.N/A3 Prime UTR Variant
PGM1 transcript variant 2NM_001172818.1:c.N/A3 Prime UTR Variant
PGM1 transcript variant 3NM_001172819.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.936T=0.064
1000GenomesAmericanSub694C=0.670T=0.330
1000GenomesEast AsianSub1008C=0.779T=0.221
1000GenomesEuropeSub1006C=0.766T=0.234
1000GenomesGlobalStudy-wide5008C=0.815T=0.185
1000GenomesSouth AsianSub978C=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.816T=0.184
The Exome Aggregation ConsortiumAmericanSub21726C=0.777T=0.222
The Exome Aggregation ConsortiumAsianSub24812C=0.806T=0.193
The Exome Aggregation ConsortiumEuropeSub72580C=0.806T=0.193
The Exome Aggregation ConsortiumGlobalStudy-wide120016C=0.801T=0.198
The Exome Aggregation ConsortiumOtherSub898C=0.800T=0.200
The Genome Aggregation DatabaseAfricanSub8716C=0.915T=0.085
The Genome Aggregation DatabaseAmericanSub836C=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1614C=0.783T=0.217
The Genome Aggregation DatabaseEuropeSub18484C=0.796T=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.826T=0.173
The Genome Aggregation DatabaseOtherSub302C=0.790T=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.846T=0.153
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.822T=0.178
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs82942.32E-09alcohol consumption21665994

eQTL of rs8294 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 rs8294 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 )
chr16407837664078513E067-46855
chr16407870464079142E067-46226
chr16408863464089292E067-36076
chr16407837664078513E068-46855
chr16408144864081915E068-43453
chr16408200764082105E068-43263
chr16408863464089292E068-36076
chr16413998664141001E06814618
chr16407837664078513E069-46855
chr16407870464079142E069-46226
chr16408144864081915E069-43453
chr16408200764082105E069-43263
chr16415682364156888E06931455
chr16415713764157261E06931769
chr16416340364163697E06938035
chr16416388464164427E06938516
chr16416515264165382E06939784
chr16410872364108792E070-16576
chr16410890164108951E070-16417
chr16410898364109138E070-16230
chr16411154664111722E070-13646
chr16416887864169157E07043510
chr16416925864169308E07043890
chr16416940064169582E07044032
chr16408144864081915E071-43453
chr16408200764082105E071-43263
chr16408221764082363E071-43005
chr16413998664141001E07114618
chr16416320364163347E07137835
chr16416340364163697E07138035
chr16416515264165382E07139784
chr16408863464089292E072-36076
chr16408960764090320E072-35048
chr16410142864101659E072-23709
chr16410205364102103E072-23265
chr16416061164160818E07235243
chr16416091864161040E07235550
chr16416107764161221E07235709
chr16416320364163347E07237835
chr16416340364163697E07238035
chr16416388464164427E07238516
chr16408144864081915E073-43453
chr16408200764082105E073-43263
chr16408200764082105E074-43263
chr16408221764082363E074-43005
chr16408863464089292E074-36076
chr16409177264091822E074-33546
chr16413998664141001E07414618
chr16408200764082105E081-43263
chr16408221764082363E081-43005
chr16408649964086636E081-38732
chr16408683464087062E081-38306
chr16408715764087315E081-38053
chr16408746164087721E081-37647
chr16408863464089292E081-36076
chr16409075664090893E081-34475
chr16409091464091024E081-34344
chr16410934364110000E081-15368
chr16413998664141001E08114618
chr16414102364142025E08115655
chr16408200764082105E082-43263
chr16408221764082363E082-43005
chr16408649964086636E082-38732
chr16408683464087062E082-38306
chr16408715764087315E082-38053
chr16408746164087721E082-37647
chr16410890164108951E082-16417
chr16410898364109138E082-16230
chr16410934364110000E082-15368
chr16411154664111722E082-13646
chr16414102364142025E08215655
chr16416887864169157E08243510
chr16416925864169308E08243890