rs844604

Homo sapiens
T>G
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0270 (8110/29938,GnomAD)
T==0236 (6887/29118,TOPMED)
T==0218 (1093/5008,1000G)
T==0339 (1305/3854,ALSPAC)
T==0341 (1266/3708,TWINSUK)
chr6:147603319 (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.147603319T>G
GRCh37.p13 chr 6NC_000006.11:g.147924455T>G

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=0.122G=0.878
1000GenomesAmericanSub694T=0.210G=0.790
1000GenomesEast AsianSub1008T=0.226G=0.774
1000GenomesEuropeSub1006T=0.335G=0.665
1000GenomesGlobalStudy-wide5008T=0.218G=0.782
1000GenomesSouth AsianSub978T=0.230G=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.339G=0.661
The Genome Aggregation DatabaseAfricanSub8718T=0.155G=0.845
The Genome Aggregation DatabaseAmericanSub838T=0.200G=0.800
The Genome Aggregation DatabaseEast AsianSub1610T=0.225G=0.775
The Genome Aggregation DatabaseEuropeSub18470T=0.330G=0.669
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.270G=0.729
The Genome Aggregation DatabaseOtherSub302T=0.390G=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.236G=0.763
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.341G=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
rs8446040.000112nicotine dependence17158188

eQTL of rs844604 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 rs844604 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 )
chr6147879754147879872E070-44583
chr6147879997147880778E070-43677
chr6147924633147924823E070178
chr6147925107147925157E070652
chr6147905560147905612E081-18843
chr6147906542147906626E081-17829
chr6147906709147906804E081-17651
chr6147906955147907730E081-16725
chr6147908923147909155E081-15300
chr6147909176147909313E081-15142
chr6147909700147909794E081-14661
chr6147910140147910190E081-14265
chr6147910489147911493E081-12962
chr6147922652147922740E081-1715
chr6147922751147922821E081-1634
chr6147922876147923316E081-1139
chr6147906542147906626E082-17829
chr6147906709147906804E082-17651
chr6147906955147907730E082-16725
chr6147910489147911493E082-12962