rs11640875

Homo sapiens
A>G
CDH13 : Intron Variant
MIR8058 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0423 (12647/29856,GnomAD)
A==0493 (14362/29118,TOPMED)
G=0474 (2373/5008,1000G)
A==0330 (1273/3854,ALSPAC)
A==0326 (1208/3708,TWINSUK)
chr16:82687819 (GRCh38.p7) (16q23.3)
AD
GWASdb2
3   publication(s)
See rs on genome
57 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.82687819A>G
GRCh37.p13 chr 16NC_000016.9:g.82721424A>G

Gene: CDH13, cadherin 13(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CDH13 transcript variant 2NM_001220488.1:c.N/AIntron Variant
CDH13 transcript variant 3NM_001220489.1:c.N/AIntron Variant
CDH13 transcript variant 4NM_001220490.1:c.N/AIntron Variant
CDH13 transcript variant 5NM_001220491.1:c.N/AIntron Variant
CDH13 transcript variant 6NM_001220492.1:c.N/AIntron Variant
CDH13 transcript variant 1NM_001257.4:c.N/AIntron Variant
CDH13 transcript variant X2XM_017022848.1:c.N/AIntron Variant
CDH13 transcript variant X3XM_017022849.1:c.N/AIntron Variant
CDH13 transcript variant X1XM_011522804.2:c.N/AGenic Upstream Transcript Variant

Gene: MIR8058, microRNA 8058(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR8058 transcriptNR_107025.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.643G=0.357
1000GenomesAmericanSub694A=0.600G=0.400
1000GenomesEast AsianSub1008A=0.589G=0.411
1000GenomesEuropeSub1006A=0.347G=0.653
1000GenomesGlobalStudy-wide5008A=0.526G=0.474
1000GenomesSouth AsianSub978A=0.430G=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.330G=0.670
The Genome Aggregation DatabaseAfricanSub8688A=0.590G=0.410
The Genome Aggregation DatabaseAmericanSub836A=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1614A=0.573G=0.427
The Genome Aggregation DatabaseEuropeSub18418A=0.323G=0.676
The Genome Aggregation DatabaseGlobalStudy-wide29856A=0.423G=0.576
The Genome Aggregation DatabaseOtherSub300A=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.493G=0.506
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.326G=0.674
PMID Title Author Journal
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
26806298Genetic variants of CDH13 determine the susceptibility to chronic obstructive pulmonary disease in a Chinese population.Yuan YMActa Pharmacol Sin
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs116408752.01E-05alcohol dependence19581569

eQTL of rs11640875 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 rs11640875 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 )
chr168267298082674011E067-47413
chr168273279882733747E06711374
chr168276888282769805E06747458
chr168273279882733747E06811374
chr168267298082674011E069-47413
chr168273279882733747E06911374
chr168273375082734452E06912326
chr168273693282737016E06915508
chr168273712582737175E06915701
chr168274691282747008E06925488
chr168267162082671726E070-49698
chr168267759582678255E070-43169
chr168267830382678462E070-42962
chr168273743282737614E07016008
chr168273762882737871E07016204
chr168273811082738198E07016686
chr168274073882740908E07019314
chr168274102182741071E07019597
chr168274121782741327E07019793
chr168275067382750772E07029249
chr168276797182768287E07046547
chr168276831682768778E07046892
chr168276888282769805E07047458
chr168276994882770247E07048524
chr168277043782770630E07049013
chr168277108682771153E07049662
chr168273279882733747E07111374
chr168273375082734452E07112326
chr168273445382735521E07113029
chr168274745582747543E07126031
chr168276888282769805E07147458
chr168273279882733747E07211374
chr168273712582737175E07215701
chr168273762882737871E07216204
chr168273811082738198E07216686
chr168274691282747008E07225488
chr168274745582747543E07226031
chr168274836782748570E07226943
chr168276831682768778E07246892
chr168276888282769805E07247458
chr168273279882733747E07311374
chr168273375082734452E07312326
chr168276831682768778E07346892
chr168276888282769805E07347458
chr168273279882733747E07411374
chr168273375082734452E07412326
chr168274745582747543E07426031
chr168276888282769805E07447458
chr168276741282767834E08145988
chr168276797182768287E08146547
chr168276831682768778E08146892
chr168276888282769805E08147458
chr168276994882770247E08148524
chr168277043782770630E08149013
chr168276831682768778E08246892
chr168276888282769805E08247458
chr168276994882770247E08248524