rs844625

Homo sapiens
T>C
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0286 (8567/29916,GnomAD)
T==0256 (7481/29118,TOPMED)
T==0237 (1188/5008,1000G)
T==0341 (1314/3854,ALSPAC)
T==0344 (1274/3708,TWINSUK)
chr6:147578081 (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.147578081T>C
GRCh37.p13 chr 6NC_000006.11:g.147899217T>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
1000GenomesAfricanSub1322T=0.187C=0.813
1000GenomesAmericanSub694T=0.220C=0.780
1000GenomesEast AsianSub1008T=0.243C=0.757
1000GenomesEuropeSub1006T=0.338C=0.662
1000GenomesGlobalStudy-wide5008T=0.237C=0.763
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.341C=0.659
The Genome Aggregation DatabaseAfricanSub8716T=0.200C=0.800
The Genome Aggregation DatabaseAmericanSub838T=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1612T=0.242C=0.758
The Genome Aggregation DatabaseEuropeSub18448T=0.332C=0.667
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.286C=0.713
The Genome Aggregation DatabaseOtherSub302T=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.256C=0.743
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.344C=0.656
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
rs8446250.000361nicotine dependence17158188

eQTL of rs844625 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 rs844625 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 )
chr6147879754147879872E070-19345
chr6147879997147880778E070-18439
chr6147924633147924823E07025416
chr6147925107147925157E07025890
chr6147905560147905612E0816343
chr6147906542147906626E0817325
chr6147906709147906804E0817492
chr6147906955147907730E0817738
chr6147908923147909155E0819706
chr6147909176147909313E0819959
chr6147909700147909794E08110483
chr6147910140147910190E08110923
chr6147910489147911493E08111272
chr6147922652147922740E08123435
chr6147922751147922821E08123534
chr6147922876147923316E08123659
chr6147906542147906626E0827325
chr6147906709147906804E0827492
chr6147906955147907730E0827738
chr6147910489147911493E08211272