rs844613

Homo sapiens
G>C
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0272 (8149/29932,GnomAD)
G==0239 (6972/29118,TOPMED)
G==0220 (1101/5008,1000G)
G==0339 (1306/3854,ALSPAC)
G==0341 (1265/3708,TWINSUK)
chr6:147597446 (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.147597446G>C
GRCh37.p13 chr 6NC_000006.11:g.147918582G>C

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=0.126C=0.874
1000GenomesAmericanSub694G=0.210C=0.790
1000GenomesEast AsianSub1008G=0.225C=0.775
1000GenomesEuropeSub1006G=0.336C=0.664
1000GenomesGlobalStudy-wide5008G=0.220C=0.780
1000GenomesSouth AsianSub978G=0.230C=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.339C=0.661
The Genome Aggregation DatabaseAfricanSub8716G=0.161C=0.839
The Genome Aggregation DatabaseAmericanSub838G=0.200C=0.800
The Genome Aggregation DatabaseEast AsianSub1608G=0.228C=0.772
The Genome Aggregation DatabaseEuropeSub18468G=0.329C=0.670
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.272C=0.727
The Genome Aggregation DatabaseOtherSub302G=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.239C=0.760
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.341C=0.659
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
rs8446130.000152nicotine dependence17158188

eQTL of rs844613 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 rs844613 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 )
chr6147879754147879872E070-38710
chr6147879997147880778E070-37804
chr6147924633147924823E0706051
chr6147925107147925157E0706525
chr6147905560147905612E081-12970
chr6147906542147906626E081-11956
chr6147906709147906804E081-11778
chr6147906955147907730E081-10852
chr6147908923147909155E081-9427
chr6147909176147909313E081-9269
chr6147909700147909794E081-8788
chr6147910140147910190E081-8392
chr6147910489147911493E081-7089
chr6147922652147922740E0814070
chr6147922751147922821E0814169
chr6147922876147923316E0814294
chr6147906542147906626E082-11956
chr6147906709147906804E082-11778
chr6147906955147907730E082-10852
chr6147910489147911493E082-7089