rs658126

Homo sapiens
T>A / T>C
PGM2L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0052 (1567/29982,GnomAD)
T==0035 (1035/29118,TOPMED)
T==0134 (670/5008,1000G)
T==0021 (82/3854,ALSPAC)
T==0019 (70/3708,TWINSUK)
chr11:74388847 (GRCh38.p7) (11q13.4)
ND
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.74388847T>A
GRCh38.p7 chr 11NC_000011.10:g.74388847T>C
GRCh37.p13 chr 11NC_000011.9:g.74099892T>A
GRCh37.p13 chr 11NC_000011.9:g.74099892T>C

Gene: PGM2L1, phosphoglucomutase 2-like 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PGM2L1 transcriptNM_173582.4:c.N/AIntron Variant
PGM2L1 transcript variant X1XM_011544953.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.019C=0.981
1000GenomesAmericanSub694T=0.130C=0.870
1000GenomesEast AsianSub1008T=0.408C=0.592
1000GenomesEuropeSub1006T=0.030C=0.970
1000GenomesGlobalStudy-wide5008T=0.134C=0.866
1000GenomesSouth AsianSub978T=0.120C=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.021C=0.979
The Genome Aggregation DatabaseAfricanSub8724T=0.020C=0.980
The Genome Aggregation DatabaseAmericanSub838T=0.130C=0.87,
The Genome Aggregation DatabaseEast AsianSub1620T=0.428C=0.572
The Genome Aggregation DatabaseEuropeSub18498T=0.031C=0.968
The Genome Aggregation DatabaseGlobalStudy-wide29982T=0.052C=0.947
The Genome Aggregation DatabaseOtherSub302T=0.050C=0.95,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.035C=0.964
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.019C=0.981
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs6581261.51E-05alcohol and nictotine co-dependence20158304

eQTL of rs658126 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 rs658126 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 )
chr11100798347100798650E068-1182
chr11100812720100813125E06812888
chr11100813169100813462E06813337
chr11100812720100813125E06912888
chr11100813169100813462E06913337
chr11100789828100790186E070-9646
chr11100790212100790279E070-9553
chr11100790547100790606E070-9226
chr11100798347100798650E071-1182
chr11100812720100813125E07112888
chr11100813169100813462E07113337
chr11100812720100813125E07212888
chr11100812720100813125E07412888
chr11100812552100812706E08112720