rs8061765

Homo sapiens
G>A
TMEM114 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0102 (3074/29976,GnomAD)
A=0119 (3471/29118,TOPMED)
A=0076 (382/5008,1000G)
A=0124 (476/3854,ALSPAC)
A=0121 (448/3708,TWINSUK)
chr16:8540871 (GRCh38.p7) (16p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.8540871G>A
GRCh37.p13 chr 16NC_000016.9:g.8590873G>A
TMEM114 RefSeqGeneNG_041767.1:g.54323C>T

Gene: TMEM114, transmembrane protein 114(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM114 transcript variant 4NM_001290098.1:c.N/AIntron Variant
TMEM114 transcript variant 1NM_001146336.1:c.N/AGenic Downstream Transcript Variant
TMEM114 transcript variant 2NM_001290095.1:c.N/AGenic Downstream Transcript Variant
TMEM114 transcript variant 3NM_001290097.1:c.N/AGenic Downstream Transcript Variant
TMEM114 transcript variant 5NR_110736.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.902A=0.098
1000GenomesAmericanSub694G=0.890A=0.110
1000GenomesEast AsianSub1008G=0.997A=0.003
1000GenomesEuropeSub1006G=0.865A=0.135
1000GenomesGlobalStudy-wide5008G=0.924A=0.076
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.876A=0.124
The Genome Aggregation DatabaseAfricanSub8718G=0.903A=0.097
The Genome Aggregation DatabaseAmericanSub836G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1622G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18498G=0.887A=0.112
The Genome Aggregation DatabaseGlobalStudy-wide29976G=0.897A=0.102
The Genome Aggregation DatabaseOtherSub302G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.880A=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.879A=0.121
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs80617650.000812alcohol dependence21314694

eQTL of rs8061765 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 rs8061765 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 )
chr1686173088617465E06726435
chr1686207898621014E06729916
chr1686207898621014E06829916
chr1686210228621835E06830149
chr1686218558621959E06830982
chr1686173088617465E06926435
chr1686174898618685E06926616
chr1686207898621014E06929916
chr1686210228621835E06930149
chr1686218558621959E06930982
chr1686173088617465E07126435
chr1686174898618685E07126616
chr1686174898618685E07226616
chr1686207898621014E07229916
chr1686210228621835E07230149
chr1686218558621959E07230982
chr1686207898621014E07429916
chr1686210228621835E07430149
chr1686218558621959E07430982
chr1686220438622142E07431170
chr1686221568622236E07431283
chr1685438028543923E081-46950
chr1685439578544407E081-46466
chr1685438028543923E082-46950
chr1685439578544407E082-46466