rs1944645

Homo sapiens
A>C
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0277 (8309/29940,GnomAD)
A==0247 (7217/29118,TOPMED)
A==0226 (1132/5008,1000G)
A==0338 (1302/3854,ALSPAC)
A==0341 (1264/3708,TWINSUK)
chr6:147594330 (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.147594330A>C
GRCh37.p13 chr 6NC_000006.11:g.147915466A>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=0.151C=0.849
1000GenomesAmericanSub694A=0.210C=0.790
1000GenomesEast AsianSub1008A=0.225C=0.775
1000GenomesEuropeSub1006A=0.335C=0.665
1000GenomesGlobalStudy-wide5008A=0.226C=0.774
1000GenomesSouth AsianSub978A=0.230C=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.338C=0.662
The Genome Aggregation DatabaseAfricanSub8720A=0.178C=0.822
The Genome Aggregation DatabaseAmericanSub838A=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1616A=0.228C=0.772
The Genome Aggregation DatabaseEuropeSub18464A=0.330C=0.669
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.277C=0.722
The Genome Aggregation DatabaseOtherSub302A=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.247C=0.752
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=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
rs19446450.000148nicotine dependence17158188

eQTL of rs1944645 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 rs1944645 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 )
chr6147879754147879872E070-35594
chr6147879997147880778E070-34688
chr6147924633147924823E0709167
chr6147925107147925157E0709641
chr6147905560147905612E081-9854
chr6147906542147906626E081-8840
chr6147906709147906804E081-8662
chr6147906955147907730E081-7736
chr6147908923147909155E081-6311
chr6147909176147909313E081-6153
chr6147909700147909794E081-5672
chr6147910140147910190E081-5276
chr6147910489147911493E081-3973
chr6147922652147922740E0817186
chr6147922751147922821E0817285
chr6147922876147923316E0817410
chr6147906542147906626E082-8840
chr6147906709147906804E082-8662
chr6147906955147907730E082-7736
chr6147910489147911493E082-3973