rs2252523

Homo sapiens
A>G
RPL3L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0299 (8971/29914,GnomAD)
A==0307 (8946/29118,TOPMED)
A==0272 (1361/5008,1000G)
A==0308 (1187/3854,ALSPAC)
A==0279 (1034/3708,TWINSUK)
chr16:1947613 (GRCh38.p7) (16p13.3)
AD
GWASdb2
2   publication(s)
See rs on genome
65 Enhancers around
82 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.1947613A>G
GRCh37.p13 chr 16NC_000016.9:g.1997614A>G

Gene: RPL3L, ribosomal protein L3 like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RPL3L transcriptNM_005061.2:c.N/AIntron Variant
RPL3L transcript variant X1XM_011522571.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.321G=0.679
1000GenomesAmericanSub694A=0.410G=0.590
1000GenomesEast AsianSub1008A=0.279G=0.721
1000GenomesEuropeSub1006A=0.280G=0.720
1000GenomesGlobalStudy-wide5008A=0.272G=0.728
1000GenomesSouth AsianSub978A=0.090G=0.910
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.308G=0.692
The Genome Aggregation DatabaseAfricanSub8710A=0.307G=0.693
The Genome Aggregation DatabaseAmericanSub838A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1616A=0.284G=0.716
The Genome Aggregation DatabaseEuropeSub18448A=0.291G=0.708
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.299G=0.700
The Genome Aggregation DatabaseOtherSub302A=0.200G=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.307G=0.692
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.279G=0.721
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
21309755Genetic mapping of vascular calcified plaque loci on chromosome 16p in European Americans from the diabetes heart study.Lehtinen ABAnn Hum Genet

P-Value

SNP ID p-value Traits Study
rs22525230.000254alcohol dependence21314694

eQTL of rs2252523 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 rs2252523 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 )
chr1620235102023641E06725896
chr1620327642032843E06735150
chr1620354432035852E06737829
chr1620358942035951E06738280
chr1620359542036136E06738340
chr1620327642032843E06835150
chr1619542511954380E069-43234
chr1620104482012057E06912834
chr1620235102023641E06925896
chr1620327642032843E06935150
chr1620104482012057E07012834
chr1620235102023641E07025896
chr1620236902023740E07026076
chr1620237592023865E07026145
chr1620238812023940E07026267
chr1620241522024219E07026538
chr1620358942035951E07038280
chr1620359542036136E07038340
chr1620361602036210E07038546
chr1620362812036554E07038667
chr1619532531953402E071-44212
chr1619542511954380E071-43234
chr1619544541954583E071-43031
chr1620104482012057E07112834
chr1620129552013128E07115341
chr1620132912013352E07115677
chr1620133982013497E07115784
chr1620235102023641E07125896
chr1620236902023740E07126076
chr1620237592023865E07126145
chr1620327642032843E07135150
chr1620354432035852E07137829
chr1620358942035951E07138280
chr1620359542036136E07138340
chr1620104482012057E07212834
chr1620133982013497E07215784
chr1620235102023641E07225896
chr1620236902023740E07226076
chr1620327642032843E07235150
chr1620354432035852E07237829
chr1620235102023641E07325896
chr1620236902023740E07326076
chr1620237592023865E07326145
chr1620327642032843E07335150
chr1619528771952927E074-44687
chr1619529401953017E074-44597
chr1619532531953402E074-44212
chr1620327642032843E07435150
chr1620129552013128E08115341
chr1620132912013352E08115677
chr1620133982013497E08115784
chr1620235102023641E08125896
chr1620236902023740E08126076
chr1620237592023865E08126145
chr1620238812023940E08126267
chr1620327642032843E08135150
chr1620354432035852E08137829
chr1620283822028491E08230768
chr1620285452028615E08230931
chr1620358942035951E08238280
chr1620359542036136E08238340
chr1620361602036210E08238546
chr1620362812036554E08238667
chr1620366162036694E08239002
chr1620367892036886E08239175










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1619912011993921E067-3693
chr1620087002010245E06711086
chr1620102862010371E06712672
chr1620135472014488E06715933
chr1620145532016068E06716939
chr1620213802021430E06723766
chr1620214792022863E06723865
chr1620330912035408E06735477
chr1619791391980543E068-17071
chr1619912011993921E068-3693
chr1620087002010245E06811086
chr1620102862010371E06812672
chr1620135472014488E06815933
chr1620145532016068E06816939
chr1620213802021430E06823766
chr1620214792022863E06823865
chr1620330912035408E06835477
chr1619791391980543E069-17071
chr1619912011993921E069-3693
chr1620087002010245E06911086
chr1620102862010371E06912672
chr1620135472014488E06915933
chr1620145532016068E06916939
chr1620213802021430E06923766
chr1620214792022863E06923865
chr1620330912035408E06935477
chr1619684131968670E070-28944
chr1619791391980543E070-17071
chr1620087002010245E07011086
chr1620102862010371E07012672
chr1620135472014488E07015933
chr1620145532016068E07016939
chr1620213802021430E07023766
chr1620214792022863E07023865
chr1620330912035408E07035477
chr1620402772044464E07042663
chr1619791391980543E071-17071
chr1619912011993921E071-3693
chr1620087002010245E07111086
chr1620102862010371E07112672
chr1620135472014488E07115933
chr1620145532016068E07116939
chr1620213802021430E07123766
chr1620214792022863E07123865
chr1620330912035408E07135477
chr1619791391980543E072-17071
chr1619912011993921E072-3693
chr1620087002010245E07211086
chr1620102862010371E07212672
chr1620145532016068E07216939
chr1620213802021430E07223766
chr1620214792022863E07223865
chr1620330912035408E07235477
chr1619791391980543E073-17071
chr1619912011993921E073-3693
chr1620087002010245E07311086
chr1620102862010371E07312672
chr1620145532016068E07316939
chr1620213802021430E07323766
chr1620214792022863E07323865
chr1620330912035408E07335477
chr1619912011993921E074-3693
chr1620087002010245E07411086
chr1620102862010371E07412672
chr1620135472014488E07415933
chr1620145532016068E07416939
chr1620213802021430E07423766
chr1620214792022863E07423865
chr1620330912035408E07435477
chr1620087002010245E08111086
chr1620135472014488E08115933
chr1620145532016068E08116939
chr1620213802021430E08123766
chr1619791391980543E082-17071
chr1619912011993921E082-3693
chr1620087002010245E08211086
chr1620102862010371E08212672
chr1620135472014488E08215933
chr1620145532016068E08216939
chr1620213802021430E08223766
chr1620214792022863E08223865
chr1620330912035408E08235477