rs844574

Homo sapiens
A>C
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0285 (8546/29892,GnomAD)
A==0255 (7452/29118,TOPMED)
A==0244 (1221/5008,1000G)
A==0345 (1330/3854,ALSPAC)
A==0348 (1291/3708,TWINSUK)
chr6:147591579 (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.147591579A>C
GRCh37.p13 chr 6NC_000006.11:g.147912715A>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
1000GenomesAfricanSub1322A=0.153C=0.847
1000GenomesAmericanSub694A=0.220C=0.780
1000GenomesEast AsianSub1008A=0.288C=0.712
1000GenomesEuropeSub1006A=0.340C=0.660
1000GenomesGlobalStudy-wide5008A=0.244C=0.756
1000GenomesSouth AsianSub978A=0.240C=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.345C=0.655
The Genome Aggregation DatabaseAfricanSub8706A=0.183C=0.817
The Genome Aggregation DatabaseAmericanSub836A=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1614A=0.308C=0.692
The Genome Aggregation DatabaseEuropeSub18436A=0.334C=0.665
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.285C=0.714
The Genome Aggregation DatabaseOtherSub300A=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.255C=0.744
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.348C=0.652
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
rs8445740.000161nicotine dependence17158188

eQTL of rs844574 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 rs844574 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 )
chr6147879754147879872E070-32843
chr6147879997147880778E070-31937
chr6147924633147924823E07011918
chr6147925107147925157E07012392
chr6147905560147905612E081-7103
chr6147906542147906626E081-6089
chr6147906709147906804E081-5911
chr6147906955147907730E081-4985
chr6147908923147909155E081-3560
chr6147909176147909313E081-3402
chr6147909700147909794E081-2921
chr6147910140147910190E081-2525
chr6147910489147911493E081-1222
chr6147922652147922740E0819937
chr6147922751147922821E08110036
chr6147922876147923316E08110161
chr6147906542147906626E082-6089
chr6147906709147906804E082-5911
chr6147906955147907730E082-4985
chr6147910489147911493E082-1222