rs844568

Homo sapiens
G>A / G>T
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0345 (10284/29746,GnomAD)
G==0339 (9878/29118,TOPMED)
G==0313 (1566/5008,1000G)
G==0346 (1335/3854,ALSPAC)
G==0349 (1293/3708,TWINSUK)
chr6:147591295 (GRCh38.p7) (6q24.3)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.147591295G>A
GRCh38.p7 chr 6NC_000006.12:g.147591295G>T
GRCh37.p13 chr 6NC_000006.11:g.147912431G>A
GRCh37.p13 chr 6NC_000006.11:g.147912431G>T

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=0.394T=0.606
1000GenomesAmericanSub694G=0.240T=0.760
1000GenomesEast AsianSub1008G=0.287T=0.713
1000GenomesEuropeSub1006G=0.349T=0.651
1000GenomesGlobalStudy-wide5008G=0.313T=0.687
1000GenomesSouth AsianSub978G=0.240T=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.346T=0.654
The Genome Aggregation DatabaseAfricanSub8672G=0.380T=0.620
The Genome Aggregation DatabaseAmericanSub834G=0.230T=0.77,
The Genome Aggregation DatabaseEast AsianSub1592G=0.307T=0.692
The Genome Aggregation DatabaseEuropeSub18346G=0.337T=0.662
The Genome Aggregation DatabaseGlobalStudy-wide29746G=0.345T=0.654
The Genome Aggregation DatabaseOtherSub302G=0.410T=0.59,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.339T=0.660
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.349T=0.651
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
rs8445680.000123nicotine dependence17158188

eQTL of rs844568 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 rs844568 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 )
chr67714490777145205E07129796