rs9322108

Homo sapiens
A>G
SAMD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0482 (14437/29922,GnomAD)
A==0488 (14210/29118,TOPMED)
G=0486 (2434/5008,1000G)
A==0435 (1677/3854,ALSPAC)
A==0428 (1587/3708,TWINSUK)
chr6:147724045 (GRCh38.p7) (6q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.147724045A>G
GRCh37.p13 chr 6NC_000006.11:g.148045181A>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
1000GenomesAfricanSub1322A=0.566G=0.434
1000GenomesAmericanSub694A=0.410G=0.590
1000GenomesEast AsianSub1008A=0.628G=0.372
1000GenomesEuropeSub1006A=0.435G=0.565
1000GenomesGlobalStudy-wide5008A=0.514G=0.486
1000GenomesSouth AsianSub978A=0.480G=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.435G=0.565
The Genome Aggregation DatabaseAfricanSub8702A=0.558G=0.442
The Genome Aggregation DatabaseAmericanSub834A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1616A=0.606G=0.394
The Genome Aggregation DatabaseEuropeSub18468A=0.436G=0.563
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.482G=0.517
The Genome Aggregation DatabaseOtherSub302A=0.500G=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.488G=0.512
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.428G=0.572
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs93221086.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs9322108 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 rs9322108 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 )
chr6147995283147995342E070-49839
chr6147995367147995441E070-49740
chr6147997722147997902E070-47279
chr6147997985147998308E070-46873
chr6147998311147998361E070-46820
chr6147998408147998467E070-46714
chr6147998494147998540E070-46641
chr6147998722147998772E070-46409
chr6147998794147998948E070-46233
chr6147998992147999049E070-46132
chr6147999135147999185E070-45996
chr6147997396147997446E081-47735
chr6147997722147997902E081-47279
chr6147997985147998308E081-46873
chr6147998311147998361E081-46820
chr6147998408147998467E081-46714
chr6147998494147998540E081-46641
chr6147998722147998772E081-46409
chr6147998794147998948E081-46233
chr6147998992147999049E081-46132
chr6147999135147999185E081-45996
chr6147999291147999383E081-45798
chr6147999508147999660E081-45521
chr6147999709147999936E081-45245
chr6148078946148079162E08133765
chr6148079357148079519E08134176
chr6148079571148080077E08134390
chr6147998311147998361E082-46820
chr6147998408147998467E082-46714
chr6147998494147998540E082-46641
chr6147998722147998772E082-46409
chr6147998794147998948E082-46233
chr6147998992147999049E082-46132
chr6147999135147999185E082-45996