rs4074375

Homo sapiens
T>C / T>G
CDH13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0140 (4207/29954,GnomAD)
G=0175 (5107/29118,TOPMED)
G=0154 (772/5008,1000G)
G=0069 (266/3854,ALSPAC)
G=0064 (237/3708,TWINSUK)
chr16:83521508 (GRCh38.p7) (16q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.83521508T>C
GRCh38.p7 chr 16NC_000016.10:g.83521508T>G
GRCh37.p13 chr 16NC_000016.9:g.83555113T>C
GRCh37.p13 chr 16NC_000016.9:g.83555113T>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 1NM_001257.4:c.N/AIntron Variant
CDH13 transcript variant 5NM_001220491.1:c.N/AGenic Downstream Transcript Variant
CDH13 transcript variant 6NM_001220492.1:c.N/AGenic Downstream Transcript Variant
CDH13 transcript variant X1XM_011522804.2:c.N/AIntron Variant
CDH13 transcript variant X2XM_017022848.1:c.N/AIntron Variant
CDH13 transcript variant X3XM_017022849.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.661G=0.339
1000GenomesAmericanSub694T=0.930G=0.070
1000GenomesEast AsianSub1008T=0.955G=0.045
1000GenomesEuropeSub1006T=0.917G=0.083
1000GenomesGlobalStudy-wide5008T=0.846G=0.154
1000GenomesSouth AsianSub978T=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.931G=0.069
The Genome Aggregation DatabaseAfricanSub8712T=0.685G=0.315
The Genome Aggregation DatabaseAmericanSub836T=0.930G=0.07,
The Genome Aggregation DatabaseEast AsianSub1620T=0.940G=0.060
The Genome Aggregation DatabaseEuropeSub18484T=0.930G=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.859G=0.140
The Genome Aggregation DatabaseOtherSub302T=0.940G=0.06,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.824G=0.175
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.936G=0.064
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs40743751.14E-05alcohol and nictotine co-dependence20158304

eQTL of rs4074375 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 rs4074375 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.