rs11179306

Homo sapiens
C>A
TRHDE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0059 (1764/29910,GnomAD)
A=0076 (2230/29118,TOPMED)
A=0048 (239/5008,1000G)
A=0066 (254/3854,ALSPAC)
A=0064 (236/3708,TWINSUK)
chr12:72653857 (GRCh38.p7) (12q21.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.72653857C>A
GRCh37.p13 chr 12NC_000012.11:g.73047637C>A
TRHDE RefSeqGeneNG_046971.1:g.386278C>A

Gene: TRHDE, thyrotropin releasing hormone degrading enzyme(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TRHDE transcriptNM_013381.2:c.N/AIntron Variant
TRHDE transcript variant X4XM_011538248.2:c.N/AIntron Variant
TRHDE transcript variant X3XM_017019244.1:c.N/AIntron Variant
TRHDE transcript variant X2XM_005268819.4:c.N/AGenic Downstream Transcript Variant
TRHDE transcript variant X1XM_017019243.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.909A=0.091
1000GenomesAmericanSub694C=0.950A=0.050
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=0.929A=0.071
1000GenomesGlobalStudy-wide5008C=0.952A=0.048
1000GenomesSouth AsianSub978C=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.934A=0.066
The Genome Aggregation DatabaseAfricanSub8728C=0.925A=0.075
The Genome Aggregation DatabaseAmericanSub838C=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1600C=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18442C=0.944A=0.055
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.941A=0.059
The Genome Aggregation DatabaseOtherSub302C=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.923A=0.076
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.936A=0.064
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs111793063E-06alcohol dependence29071344

eQTL of rs11179306 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 rs11179306 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.