rs4461636

Homo sapiens
T>G
CDH18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0092 (2769/29954,GnomAD)
T==0096 (2810/29118,TOPMED)
T==0121 (607/5008,1000G)
T==0090 (346/3854,ALSPAC)
T==0083 (309/3708,TWINSUK)
chr5:19885107 (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.19885107T>G
GRCh37.p13 chr 5NC_000005.9:g.19885216T>G

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 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=0.096G=0.904
1000GenomesAmericanSub694T=0.100G=0.900
1000GenomesEast AsianSub1008T=0.238G=0.762
1000GenomesEuropeSub1006T=0.086G=0.914
1000GenomesGlobalStudy-wide5008T=0.121G=0.879
1000GenomesSouth AsianSub978T=0.080G=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.090G=0.910
The Genome Aggregation DatabaseAfricanSub8722T=0.116G=0.884
The Genome Aggregation DatabaseAmericanSub838T=0.090G=0.910
The Genome Aggregation DatabaseEast AsianSub1602T=0.212G=0.788
The Genome Aggregation DatabaseEuropeSub18490T=0.069G=0.930
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.092G=0.907
The Genome Aggregation DatabaseOtherSub302T=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.096G=0.903
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.083G=0.917
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
rs44616361.41E-07nicotine dependence (smoking)23643383

eQTL of rs4461636 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 rs4461636 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 )
chr51990246119902725E06717245