rs844563

Homo sapiens
T>C
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0291 (8730/29914,GnomAD)
T==0267 (7791/29118,TOPMED)
T==0243 (1217/5008,1000G)
T==0340 (1309/3854,ALSPAC)
T==0341 (1265/3708,TWINSUK)
chr6:147588032 (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.147588032T>C
GRCh37.p13 chr 6NC_000006.11:g.147909168T>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=0.215C=0.785
1000GenomesAmericanSub694T=0.220C=0.780
1000GenomesEast AsianSub1008T=0.239C=0.761
1000GenomesEuropeSub1006T=0.335C=0.665
1000GenomesGlobalStudy-wide5008T=0.243C=0.757
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.340C=0.660
The Genome Aggregation DatabaseAfricanSub8724T=0.227C=0.773
The Genome Aggregation DatabaseAmericanSub836T=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1612T=0.245C=0.755
The Genome Aggregation DatabaseEuropeSub18440T=0.329C=0.671
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.291C=0.708
The Genome Aggregation DatabaseOtherSub302T=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.267C=0.732
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=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
rs8445630.00043nicotine dependence17158188

eQTL of rs844563 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 rs844563 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 )
chr6147879754147879872E070-29296
chr6147879997147880778E070-28390
chr6147924633147924823E07015465
chr6147925107147925157E07015939
chr6147905560147905612E081-3556
chr6147906542147906626E081-2542
chr6147906709147906804E081-2364
chr6147906955147907730E081-1438
chr6147908923147909155E081-13
chr6147909176147909313E0818
chr6147909700147909794E081532
chr6147910140147910190E081972
chr6147910489147911493E0811321
chr6147922652147922740E08113484
chr6147922751147922821E08113583
chr6147922876147923316E08113708
chr6147906542147906626E082-2542
chr6147906709147906804E082-2364
chr6147906955147907730E082-1438
chr6147910489147911493E0821321