rs62382402

Homo sapiens
C>T
TIMD4 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0169 (5066/29930,GnomAD)
T=0174 (5079/29118,TOPMED)
T=0177 (884/5008,1000G)
T=0176 (678/3854,ALSPAC)
T=0161 (598/3708,TWINSUK)
chr5:156964807 (GRCh38.p7) (5q33.3)
AD
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.156964807C>T
GRCh37.p13 chr 5NC_000005.9:g.156391818C>T

Gene: TIMD4, T-cell immunoglobulin and mucin domain containing 4(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
TIMD4 transcript variant 2NM_001146726.1:c.N/AUpstream Transcript Variant
TIMD4 transcript variant 1NM_138379.2:c.N/AUpstream Transcript Variant
TIMD4 transcript variant X2XM_011534694.2:c.N/AUpstream Transcript Variant
TIMD4 transcript variant X1XM_017010021.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.769T=0.231
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.842T=0.158
1000GenomesEuropeSub1006C=0.847T=0.153
1000GenomesGlobalStudy-wide5008C=0.823T=0.177
1000GenomesSouth AsianSub978C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.824T=0.176
The Genome Aggregation DatabaseAfricanSub8714C=0.810T=0.190
The Genome Aggregation DatabaseAmericanSub838C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1622C=0.861T=0.139
The Genome Aggregation DatabaseEuropeSub18454C=0.835T=0.164
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.830T=0.169
The Genome Aggregation DatabaseOtherSub302C=0.790T=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.825T=0.174
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.839T=0.161
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs623824021.58E-05alcohol consumption23743675

eQTL of rs62382402 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 rs62382402 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.