rs4873568

Homo sapiens
T>C
PXDNL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0321 (9592/29836,GnomAD)
T==0351 (10232/29118,TOPMED)
T==0357 (1788/5008,1000G)
T==0265 (1022/3854,ALSPAC)
T==0257 (954/3708,TWINSUK)
chr8:51644871 (GRCh38.p7) (8q11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.51644871T>C
GRCh37.p13 chr 8NC_000008.10:g.52557431T>C

Gene: PXDNL, peroxidasin like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PXDNL transcriptNM_144651.4:c.N/AIntron Variant
PXDNL transcript variant X3XM_006716420.3:c.N/AIntron Variant
PXDNL transcript variant X1XM_011517456.2:c.N/AIntron Variant
PXDNL transcript variant X2XM_011517457.2:c.N/AIntron Variant
PXDNL transcript variant X8XM_011517459.2:c.N/AIntron Variant
PXDNL transcript variant X3XM_005251168.3:c.N/AGenic Upstream Transcript Variant
PXDNL transcript variant X1XM_011517458.2:c.N/AGenic Upstream Transcript Variant
PXDNL transcript variant X2XM_017013041.1:c.N/AGenic Upstream Transcript Variant
PXDNL transcript variant X6XR_928757.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.451C=0.549
1000GenomesAmericanSub694T=0.290C=0.710
1000GenomesEast AsianSub1008T=0.392C=0.608
1000GenomesEuropeSub1006T=0.273C=0.727
1000GenomesGlobalStudy-wide5008T=0.357C=0.643
1000GenomesSouth AsianSub978T=0.330C=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.265C=0.735
The Genome Aggregation DatabaseAfricanSub8676T=0.442C=0.558
The Genome Aggregation DatabaseAmericanSub836T=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1606T=0.380C=0.620
The Genome Aggregation DatabaseEuropeSub18416T=0.263C=0.736
The Genome Aggregation DatabaseGlobalStudy-wide29836T=0.321C=0.678
The Genome Aggregation DatabaseOtherSub302T=0.180C=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.351C=0.648
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.257C=0.743
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
rs48735680.00041alcohol dependence20201924

eQTL of rs4873568 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 rs4873568 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 )
chr85253044352530822E071-26609
chr85253044352530822E081-26609
chr85256785052567951E08110419
chr85257752752577684E08120096
chr85257775252577838E08120321
chr85257799652578046E08120565