rs139438618

Homo sapiens
A>G
SEMA3A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0048 (1447/29902,GnomAD)
G=0072 (2111/29118,TOPMED)
G=0056 (278/5008,1000G)
G=0005 (18/3854,ALSPAC)
G=0005 (18/3708,TWINSUK)
chr7:84008281 (GRCh38.p7) (7q21.11)
AD
GWASCatalog
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.84008281A>G
GRCh37.p13 chr 7NC_000007.13:g.83637597A>G
SEMA3A RefSeqGeneNG_011489.1:g.191621T>C

Gene: SEMA3A, semaphorin 3A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SEMA3A transcriptNM_006080.2:c.N/AIntron Variant
SEMA3A transcript variant X2XM_005250110.3:c.N/AIntron Variant
SEMA3A transcript variant X5XM_005250111.4:c.N/AIntron Variant
SEMA3A transcript variant X3XM_006715839.3:c.N/AIntron Variant
SEMA3A transcript variant X3XM_011515734.2:c.N/AIntron Variant
SEMA3A transcript variant X6XM_017011673.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.828G=0.172
1000GenomesAmericanSub694A=0.980G=0.020
1000GenomesEast AsianSub1008A=0.984G=0.016
1000GenomesEuropeSub1006A=0.990G=0.010
1000GenomesGlobalStudy-wide5008A=0.944G=0.056
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.995G=0.005
The Genome Aggregation DatabaseAfricanSub8704A=0.848G=0.152
The Genome Aggregation DatabaseAmericanSub836A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1622A=0.981G=0.019
The Genome Aggregation DatabaseEuropeSub18438A=0.995G=0.004
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.951G=0.048
The Genome Aggregation DatabaseOtherSub302A=0.990G=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.927G=0.072
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.995G=0.005
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs1394386182E-11alcohol dependence29071344

eQTL of rs139438618 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 rs139438618 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 )
chr78366960483670083E06732007
chr78367011583670219E06732518
chr78366960483670083E06832007
chr78367011583670219E06832518
chr78366960483670083E06932007
chr78367094483672020E06933347
chr78366960483670083E07132007
chr78365457483655619E07216977
chr78366960483670083E07232007
chr78367011583670219E07232518
chr78366960483670083E07432007
chr78367011583670219E07432518
chr78359935183599484E081-38113
chr78359950883599558E081-38039
chr78359964183599831E081-37766
chr78358811783588351E082-49246
chr78358837183588460E082-49137
chr78358881483588988E082-48609
chr78359935183599484E082-38113
chr78359950883599558E082-38039
chr78359964183599831E082-37766
chr78365073583650932E08213138
chr78365097783651203E08213380
chr78365135883651452E08213761
chr78365146883651602E08213871
chr78365179783651857E08214200
chr78365197083652605E08214373
chr78365270683652766E08215109
chr78365285483652952E08215257