rs702353

Homo sapiens
G>A
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0411 (12309/29900,GnomAD)
G==0391 (11387/29118,TOPMED)
G==0438 (2193/5008,1000G)
G==0418 (1610/3854,ALSPAC)
G==0417 (1546/3708,TWINSUK)
chr6:147585618 (GRCh38.p7) (6q24.3)
ND
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.147585618G>A
GRCh37.p13 chr 6NC_000006.11:g.147906754G>A

Gene: SAMD5, sterile alpha motif domain containing 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SAMD5 transcriptNM_001030060.2:c.N/AGenic Downstream Transcript Variant
SAMD5 transcript variant X1XM_017010850.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.367A=0.633
1000GenomesAmericanSub694G=0.410A=0.590
1000GenomesEast AsianSub1008G=0.545A=0.455
1000GenomesEuropeSub1006G=0.409A=0.591
1000GenomesGlobalStudy-wide5008G=0.438A=0.562
1000GenomesSouth AsianSub978G=0.480A=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.418A=0.582
The Genome Aggregation DatabaseAfricanSub8706G=0.378A=0.622
The Genome Aggregation DatabaseAmericanSub836G=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1614G=0.572A=0.428
The Genome Aggregation DatabaseEuropeSub18442G=0.413A=0.586
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.411A=0.588
The Genome Aggregation DatabaseOtherSub302G=0.490A=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.391A=0.608
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.417A=0.583
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
rs7023530.000704nicotine dependence17158188

eQTL of rs702353 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 rs702353 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 )
chr6147879754147879872E070-26882
chr6147879997147880778E070-25976
chr6147924633147924823E07017879
chr6147925107147925157E07018353
chr6147905560147905612E081-1142
chr6147906542147906626E081-128
chr6147906709147906804E0810
chr6147906955147907730E081201
chr6147908923147909155E0812169
chr6147909176147909313E0812422
chr6147909700147909794E0812946
chr6147910140147910190E0813386
chr6147910489147911493E0813735
chr6147922652147922740E08115898
chr6147922751147922821E08115997
chr6147922876147923316E08116122
chr6147906542147906626E082-128
chr6147906709147906804E0820
chr6147906955147907730E082201
chr6147910489147911493E0823735