rs11847860

Homo sapiens
T>A / T>G
C14orf132 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0067 (2029/29990,GnomAD)
G=0088 (440/5008,1000G)
G=0048 (186/3854,ALSPAC)
G=0050 (185/3708,TWINSUK)
chr14:96045680 (GRCh38.p7) (14q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.96045680T>A
GRCh38.p7 chr 14NC_000014.9:g.96045680T>G
GRCh37.p13 chr 14NC_000014.8:g.96512017T>A
GRCh37.p13 chr 14NC_000014.8:g.96512017T>G

Gene: C14orf132, chromosome 14 open reading frame 132(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C14orf132 transcript variant 2NM_001252507.2:c.N/AIntron Variant
C14orf132 transcript variant 1NM_001282463.1:c.N/AIntron Variant
C14orf132 transcript variant 3NM_001282464.1:c.N/AIntron Variant
C14orf132 transcript variant 4NM_001289139.1:c.N/AIntron Variant
C14orf132 transcript variant X1XM_017021469.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.880G=0.120
1000GenomesAmericanSub694T=0.950G=0.050
1000GenomesEast AsianSub1008T=0.843G=0.157
1000GenomesEuropeSub1006T=0.954G=0.046
1000GenomesGlobalStudy-wide5008T=0.912G=0.088
1000GenomesSouth AsianSub978T=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.952G=0.048
The Genome Aggregation DatabaseAfricanSub8722T=0.879G=0.121
The Genome Aggregation DatabaseAmericanSub838T=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1622T=0.847G=0.153
The Genome Aggregation DatabaseEuropeSub18506T=0.963G=0.036
The Genome Aggregation DatabaseGlobalStudy-wide29990T=0.932G=0.067
The Genome Aggregation DatabaseOtherSub302T=0.970G=0.030
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.950G=0.050
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs118478601.48E-05alcohol consumption23953852

eQTL of rs11847860 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 rs11847860 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.