rs2606747

Homo sapiens
T>C / T>G
ATG7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0127 (3824/29962,GnomAD)
T==0130 (3784/29114,TOPMED)
T==0082 (410/5008,1000G)
T==0170 (656/3854,ALSPAC)
T==0184 (684/3708,TWINSUK)
chr3:11333481 (GRCh38.p7) (3p25.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.11333481T>G
GRCh38.p7 chr 3NC_000003.12:g.11333481T>C
GRCh37.p13 chr 3NC_000003.11:g.11374955T>G
GRCh37.p13 chr 3NC_000003.11:g.11374955T>C

Gene: ATG7, autophagy related 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ATG7 transcript variant 2NM_001136031.2:c.N/AIntron Variant
ATG7 transcript variant 3NM_001144912.1:c.N/AIntron Variant
ATG7 transcript variant 1NM_006395.2:c.N/AIntron Variant
ATG7 transcript variant X2XM_006712931.3:c.N/AIntron Variant
ATG7 transcript variant X3XM_006712932.3:c.N/AIntron Variant
ATG7 transcript variant X6XM_006712933.3:c.N/AIntron Variant
ATG7 transcript variant X1XM_011533277.2:c.N/AIntron Variant
ATG7 transcript variant X5XM_011533278.2:c.N/AIntron Variant
ATG7 transcript variant X7XM_011533279.2:c.N/AIntron Variant
ATG7 transcript variant X9XM_011533280.2:c.N/AIntron Variant
ATG7 transcript variant X11XM_011533281.2:c.N/AIntron Variant
ATG7 transcript variant X11XM_011533282.2:c.N/AIntron Variant
ATG7 transcript variant X13XM_011533283.2:c.N/AIntron Variant
ATG7 transcript variant X17XM_011533284.2:c.N/AIntron Variant
ATG7 transcript variant X21XM_011533285.2:c.N/AIntron Variant
ATG7 transcript variant X21XM_011533286.2:c.N/AIntron Variant
ATG7 transcript variant X4XM_017005542.1:c.N/AIntron Variant
ATG7 transcript variant X10XM_017005543.1:c.N/AIntron Variant
ATG7 transcript variant X12XM_017005544.1:c.N/AIntron Variant
ATG7 transcript variant X13XM_017005545.1:c.N/AIntron Variant
ATG7 transcript variant X14XM_017005546.1:c.N/AIntron Variant
ATG7 transcript variant X15XM_017005547.1:c.N/AIntron Variant
ATG7 transcript variant X14XM_017005548.1:c.N/AIntron Variant
ATG7 transcript variant X22XM_017005549.1:c.N/AIntron Variant
ATG7 transcript variant X20XM_017005550.1:c.N/AIntron Variant
ATG7 transcript variant X22XM_017005551.1:c.N/AIntron Variant
ATG7 transcript variant X26XM_017005552.1:c.N/AIntron Variant
ATG7 transcript variant X27XM_017005553.1:c.N/AIntron Variant
ATG7 transcript variant X28XM_017005554.1:c.N/AIntron Variant
ATG7 transcript variant X19XR_001739980.1:n.N/AIntron Variant
ATG7 transcript variant X15XR_940363.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.051C=0.939
1000GenomesAmericanSub694T=0.110C=0.89,
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.200C=0.800
1000GenomesGlobalStudy-wide5008T=0.082C=0.916
1000GenomesSouth AsianSub978T=0.070C=0.93,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.170C=0.830
The Genome Aggregation DatabaseAfricanSub8720T=0.070C=0.917
The Genome Aggregation DatabaseAmericanSub838T=0.110C=0.89,
The Genome Aggregation DatabaseEast AsianSub1622T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18480T=0.164C=0.835
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.127C=0.868
The Genome Aggregation DatabaseOtherSub302T=0.280C=0.72,
Trans-Omics for Precision MedicineGlobalStudy-wide29114T=0.130C=0.870
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.184C=0.816
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs26067470.000667nicotine dependence17158188

eQTL of rs2606747 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 rs2606747 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.