rs7135349

Homo sapiens
C>T
C12orf40 : Intron Variant
SLC2A13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0010 (319/29982,GnomAD)
T=0017 (502/29118,TOPMED)
T=0013 (66/5008,1000G)
chr12:39890752 (GRCh38.p7) (12q12)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.39890752C>T
GRCh37.p13 chr 12NC_000012.11:g.40284554C>T

Gene: SLC2A13, solute carrier family 2 member 13(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC2A13 transcriptNM_052885.3:c.N/AIntron Variant
SLC2A13 transcript variant X1XM_011537847.2:c.N/AIntron Variant
SLC2A13 transcript variant X6XM_011537849.2:c.N/AIntron Variant
SLC2A13 transcript variant X7XM_011537850.2:c.N/AIntron Variant
SLC2A13 transcript variant X4XM_017018764.1:c.N/AIntron Variant
SLC2A13 transcript variant X5XM_017018765.1:c.N/AIntron Variant
SLC2A13 transcript variant X8XM_017018766.1:c.N/AIntron Variant
SLC2A13 transcript variant X2XR_001748567.1:n.N/AIntron Variant
SLC2A13 transcript variant X3XR_001748568.1:n.N/AIntron Variant

Gene: C12orf40, chromosome 12 open reading frame 40(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C12orf40 transcript variant 1NM_001031748.3:c.N/AGenic Downstream Transcript Variant
C12orf40 transcript variant 2NM_001319247.1:c.N/AGenic Downstream Transcript Variant
C12orf40 transcript variant 3NR_135051.1:n.N/AIntron Variant
C12orf40 transcript variant X1XM_005268806.3:c.N/AGenic Downstream Transcript Variant
C12orf40 transcript variant X2XM_011538231.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.953T=0.047
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.987T=0.013
1000GenomesSouth AsianSub978C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8730C=0.964T=0.036
The Genome Aggregation DatabaseAmericanSub836C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1618C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496C=1.000T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.989T=0.010
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.982T=0.017
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs71353495.94E-05nicotine smoking19268276

eQTL of rs7135349 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 rs7135349 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 )
chr124029837240298517E06713818
chr124029861240298965E06714058
chr124029861240298965E06814058
chr124029907240299240E06814518
chr124029861240298965E06914058
chr124029907240299240E06914518
chr124027845840279006E070-5548
chr124027903040279080E070-5474
chr124027994640280220E070-4334
chr124028029840280338E070-4216
chr124028161940281714E070-2840
chr124028176640282016E070-2538
chr124032204240322100E07037488
chr124032213140322650E07037577
chr124032270740322787E07038153
chr124029936840299439E07114814
chr124029837240298517E07213818
chr124029861240298965E07214058
chr124029783840297888E07313284
chr124029811340298163E07313559
chr124029837240298517E07313818
chr124029861240298965E07314058
chr124029772140297765E08113167
chr124029783840297888E08113284
chr124029811340298163E08113559
chr124029837240298517E08113818
chr124029861240298965E08114058
chr124029907240299240E08114518
chr124029936840299439E08114814
chr124030022240300262E08115668
chr124032204240322100E08137488
chr124032213140322650E08137577
chr124032270740322787E08138153
chr124032407040324114E08139516
chr124029861240298965E08214058
chr124029907240299240E08214518
chr124029936840299439E08214814
chr124032213140322650E08237577
chr124032270740322787E08238153