rs4866159

Homo sapiens
T>C
CDH18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0180 (5405/29948,GnomAD)
T==0238 (6939/29118,TOPMED)
T==0223 (1119/5008,1000G)
T==0095 (368/3854,ALSPAC)
T==0086 (320/3708,TWINSUK)
chr5:19892825 (GRCh38.p7) (5p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.19892825T>C
GRCh37.p13 chr 5NC_000005.9:g.19892934T>C

Gene: CDH18, cadherin 18(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CDH18 transcript variant 2NM_001167667.1:c.N/AIntron Variant
CDH18 transcript variant 3NM_001291956.1:c.N/AIntron Variant
CDH18 transcript variant 1NM_004934.3:c.N/AIntron Variant
CDH18 transcript variant 4NM_001291957.1:c.N/AGenic Upstream Transcript Variant
CDH18 transcript variant X6XM_005248228.3:c.N/AIntron Variant
CDH18 transcript variant X14XM_011513930.2:c.N/AIntron Variant
CDH18 transcript variant X1XM_017008924.1:c.N/AIntron Variant
CDH18 transcript variant X2XM_017008925.1:c.N/AIntron Variant
CDH18 transcript variant X3XM_017008926.1:c.N/AIntron Variant
CDH18 transcript variant X4XM_017008927.1:c.N/AIntron Variant
CDH18 transcript variant X5XM_017008928.1:c.N/AIntron Variant
CDH18 transcript variant X7XM_017008929.1:c.N/AIntron Variant
CDH18 transcript variant X10XM_017008931.1:c.N/AIntron Variant
CDH18 transcript variant X11XM_017008932.1:c.N/AIntron Variant
CDH18 transcript variant X15XM_017008933.1:c.N/AIntron Variant
CDH18 transcript variant X16XM_017008934.1:c.N/AIntron Variant
CDH18 transcript variant X17XM_017008935.1:c.N/AIntron Variant
CDH18 transcript variant X18XM_017008936.1:c.N/AIntron Variant
CDH18 transcript variant X19XM_017008937.1:c.N/AIntron Variant
CDH18 transcript variant X20XM_017008938.1:c.N/AIntron Variant
CDH18 transcript variant X21XM_017008939.1:c.N/AIntron Variant
CDH18 transcript variant X22XM_017008940.1:c.N/AIntron Variant
CDH18 transcript variant X23XM_017008941.1:c.N/AIntron Variant
CDH18 transcript variant X8XM_006714435.3:c.N/AGenic Upstream Transcript Variant
CDH18 transcript variant X12XM_011513928.2:c.N/AGenic Upstream Transcript Variant
CDH18 transcript variant X13XM_011513929.2:c.N/AGenic Upstream Transcript Variant
CDH18 transcript variant X9XM_017008930.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.455C=0.545
1000GenomesAmericanSub694T=0.130C=0.870
1000GenomesEast AsianSub1008T=0.239C=0.761
1000GenomesEuropeSub1006T=0.092C=0.908
1000GenomesGlobalStudy-wide5008T=0.223C=0.777
1000GenomesSouth AsianSub978T=0.100C=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.095C=0.905
The Genome Aggregation DatabaseAfricanSub8724T=0.407C=0.593
The Genome Aggregation DatabaseAmericanSub834T=0.120C=0.880
The Genome Aggregation DatabaseEast AsianSub1604T=0.211C=0.789
The Genome Aggregation DatabaseEuropeSub18484T=0.073C=0.926
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.180C=0.819
The Genome Aggregation DatabaseOtherSub302T=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.238C=0.761
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.086C=0.914
PMID Title Author Journal
23643383Genome-wide association analysis for multiple continuous secondary phenotypes.Schifano EDAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs48661591.11E-06nicotine dependence (smoking)23643383

eQTL of rs4866159 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 rs4866159 in Fetal Brain

Probe ID Position Gene beta p-value
cg26564714chr5:1027884NKD2-0.02372574942112813.3406e-9

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 )
chr51990246119902725E0679527