rs760347

Homo sapiens
C>T
SAMSN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0294 (8814/29888,GnomAD)
T=0278 (8116/29118,TOPMED)
T=0340 (1704/5008,1000G)
T=0268 (1031/3854,ALSPAC)
T=0283 (1050/3708,TWINSUK)
chr21:14568068 (GRCh38.p7) (21q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.14568068C>T
GRCh37.p13 chr 21NC_000021.8:g.15940389C>T

Gene: SAMSN1, SAM domain, SH3 domain and nuclear localization signals 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SAMSN1 transcript variant 2NM_001256370.1:c.N/AIntron Variant
SAMSN1 transcript variant 3NM_001286523.1:c.N/AGenic Upstream Transcript Variant
SAMSN1 transcript variant 1NM_022136.4:c.N/AGenic Upstream Transcript Variant
SAMSN1 transcript variant X1XM_011529684.2:c.N/AGenic Upstream Transcript Variant
SAMSN1 transcript variant X2XM_011529685.1:c.N/AGenic Upstream Transcript Variant
SAMSN1 transcript variant X4XM_011529686.1:c.N/AGenic Upstream Transcript Variant
SAMSN1 transcript variant X3XM_017028427.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.759T=0.241
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.520T=0.480
1000GenomesEuropeSub1006C=0.713T=0.287
1000GenomesGlobalStudy-wide5008C=0.660T=0.340
1000GenomesSouth AsianSub978C=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.732T=0.268
The Genome Aggregation DatabaseAfricanSub8714C=0.754T=0.246
The Genome Aggregation DatabaseAmericanSub838C=0.490T=0.510
The Genome Aggregation DatabaseEast AsianSub1592C=0.496T=0.504
The Genome Aggregation DatabaseEuropeSub18444C=0.709T=0.290
The Genome Aggregation DatabaseGlobalStudy-wide29888C=0.705T=0.294
The Genome Aggregation DatabaseOtherSub300C=0.720T=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.721T=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.717T=0.283
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs7603470.000685alcohol dependence21314694

eQTL of rs760347 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 rs760347 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 )
chr211589992415900065E068-40324

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr211591666915916968E068-23421
chr211591666915916968E071-23421
chr211591754715917671E071-22718
chr211591771715917789E071-22600
chr211591786715918955E071-21434