rs4242066

Homo sapiens
C>A
CDH18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0098 (2953/29986,GnomAD)
C==0110 (3218/29118,TOPMED)
C==0129 (646/5008,1000G)
C==0089 (342/3854,ALSPAC)
C==0082 (303/3708,TWINSUK)
chr5:19840836 (GRCh38.p7) (5p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.19840836C>A
GRCh37.p13 chr 5NC_000005.9:g.19840945C>A

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 4NM_001291957.1:c.N/AIntron Variant
CDH18 transcript variant 1NM_004934.3:c.N/AIntron Variant
CDH18 transcript variant X6XM_005248228.3:c.N/AIntron Variant
CDH18 transcript variant X8XM_006714435.3: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 X9XM_017008930.1: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 X12XM_011513928.2:c.N/AGenic Upstream Transcript Variant
CDH18 transcript variant X13XM_011513929.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.147A=0.853
1000GenomesAmericanSub694C=0.080A=0.920
1000GenomesEast AsianSub1008C=0.234A=0.766
1000GenomesEuropeSub1006C=0.084A=0.916
1000GenomesGlobalStudy-wide5008C=0.129A=0.871
1000GenomesSouth AsianSub978C=0.080A=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.089A=0.911
The Genome Aggregation DatabaseAfricanSub8730C=0.153A=0.847
The Genome Aggregation DatabaseAmericanSub836C=0.070A=0.930
The Genome Aggregation DatabaseEast AsianSub1614C=0.214A=0.786
The Genome Aggregation DatabaseEuropeSub18506C=0.062A=0.937
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.098A=0.901
The Genome Aggregation DatabaseOtherSub300C=0.170A=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.110A=0.889
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.082A=0.918
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
rs42420669.5E-08nicotine dependence (smoking)23643383

eQTL of rs4242066 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 rs4242066 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.