rs1805243

Homo sapiens
T>C / T>G
SEMA5A : 5 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0054 (1625/29978,GnomAD)
T==0058 (422/7272,GO-ESP)
C=0055 (274/5008,1000G)
C=0080 (307/3854,ALSPAC)
C=0079 (294/3708,TWINSUK)
chr5:9379998 (GRCh38.p7) (5p15.31)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.9379998T>C
GRCh38.p7 chr 5NC_000005.10:g.9379998T>G
GRCh37.p13 chr 5NC_000005.9:g.9380110T>C
GRCh37.p13 chr 5NC_000005.9:g.9380110T>G
SEMA5A RefSeqGeneNG_016410.1:g.171124A>G
SEMA5A RefSeqGeneNG_016410.1:g.171124A>C

Gene: SEMA5A, semaphorin 5A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SEMA5A transcriptNM_003966.2:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X2XM_011514156.1:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X3XM_006714506.2:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X4XM_011514157.1:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X6XM_011514158.1:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X1XM_011514155.2:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X5XM_006714507.3:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X8XM_017010016.1:c.N/A5 Prime UTR Variant
SEMA5A transcript variant X7XM_011514159.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.984C=0.016
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.981C=0.019
1000GenomesEuropeSub1006T=0.918C=0.082
1000GenomesGlobalStudy-wide5008T=0.945C=0.055
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.920C=0.080
The Genome Aggregation DatabaseAfricanSub8720T=0.981G=0.000
The Genome Aggregation DatabaseAmericanSub838T=0.950G=0.00,
The Genome Aggregation DatabaseEast AsianSub1622T=0.982G=0.000
The Genome Aggregation DatabaseEuropeSub18496T=0.926G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29978T=0.945G=0.000
The Genome Aggregation DatabaseOtherSub302T=0.930G=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.921C=0.079
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs18052430.00046alcohol dependence(early age of onset)20201924
rs18052430.00061alcohol dependence20201924

eQTL of rs1805243 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 rs1805243 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 )
chr558828245884042E070-40019
chr558873815887517E070-36544
chr559028435903769E070-20292
chr559041755904235E070-19826
chr559287085930077E0704647
chr559301505930200E0706089
chr559304975930598E0706436
chr559306515931276E0706590
chr559313425931409E0707281
chr558828245884042E081-40019
chr559028435903769E081-20292
chr559041755904235E081-19826
chr559222325922399E081-1662
chr559225605922713E081-1348
chr559253775925636E0811316
chr559287085930077E0814647
chr559301505930200E0816089
chr559304975930598E0816436
chr559306515931276E0816590
chr559313425931409E0817281
chr559315195931636E0817458
chr558828245884042E082-40019
chr559028435903769E082-20292
chr559041755904235E082-19826
chr559054485905498E082-18563
chr559222325922399E082-1662
chr559225605922713E082-1348
chr559253775925636E0821316
chr559287085930077E0824647
chr559301505930200E0826089
chr559304975930598E0826436
chr559306515931276E0826590
chr559313425931409E0827281