rs2269233

Homo sapiens
T>C / T>G
PGM1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0244 (7314/29906,GnomAD)
C=0243 (7080/29118,TOPMED)
C=0263 (1318/5008,1000G)
C=0192 (741/3854,ALSPAC)
C=0186 (688/3708,TWINSUK)
chr1:63653675 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.63653675T>C
GRCh38.p7 chr 1NC_000001.11:g.63653675T>G
GRCh37.p13 chr 1NC_000001.10:g.64119346T>C
GRCh37.p13 chr 1NC_000001.10:g.64119346T>G
PGM1 RefSeqGeneNG_016966.1:g.65400T>C
PGM1 RefSeqGeneNG_016966.1:g.65400T>G

Gene: PGM1, phosphoglucomutase 1(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.670C=0.330
1000GenomesAmericanSub694T=0.600C=0.400
1000GenomesEast AsianSub1008T=0.793C=0.207
1000GenomesEuropeSub1006T=0.773C=0.227
1000GenomesGlobalStudy-wide5008T=0.737C=0.263
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.808C=0.192
The Genome Aggregation DatabaseAfricanSub8696T=0.710C=0.290
The Genome Aggregation DatabaseAmericanSub838T=0.620C=0.38,
The Genome Aggregation DatabaseEast AsianSub1618T=0.785C=0.215
The Genome Aggregation DatabaseEuropeSub18452T=0.780C=0.219
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.755C=0.244
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.22,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.756C=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.814C=0.186
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
rs22692333.15E-08alcohol consumption21665994

eQTL of rs2269233 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 rs2269233 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.