rs5930973

Homo sapiens
G>A
CD40LG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0044 (938/20999,GnomAD)
A=0017 (66/3775,1000G)
A=0055 (204/3708,TWINSUK)
A=0054 (156/2889,ALSPAC)
chrX:136649989 (GRCh38.p7) (Xq26.3)
AD
GWASdb2
3   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.136649989G>A
GRCh37.p13 chr XNC_000023.10:g.135732148G>A
CD40LG RefSeqGene LRG_141

Gene: CD40LG, CD40 ligand(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CD40LG transcriptNM_000074.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003G=0.999A=0.001
1000GenomesAmericanSub524G=0.980A=0.020
1000GenomesEast AsianSub764G=1.000A=0.000
1000GenomesEuropeSub766G=0.930A=0.070
1000GenomesGlobalStudy-wide3775G=0.983A=0.017
1000GenomesSouth AsianSub718G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889G=0.946A=0.054
The Genome Aggregation DatabaseAfricanSub5984G=0.991A=0.009
The Genome Aggregation DatabaseAmericanSub611G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1038G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub13178G=0.933A=0.066
The Genome Aggregation DatabaseGlobalStudy-wide20999G=0.955A=0.044
The Genome Aggregation DatabaseOtherSub188G=0.990A=0.010
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.945A=0.055
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20734064A large-scale candidate gene association study of age at menarche and age at natural menopause.He CHum Genet
25652333Genetics of serum concentration of IL-6 and TNFalpha in systemic lupus erythematosus and rheumatoid arthritis: a candidate gene analysis.Solus JFClin Rheumatol

P-Value

SNP ID p-value Traits Study
rs59309730.00019alcohol dependence(early age of onset)20201924
rs59309730.00037alcohol dependence20201924

eQTL of rs5930973 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 rs5930973 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 )
chrX135762284135762334E06730136
chrX135776548135777255E06944400
chrX135743039135743387E07110891
chrX135741044135741552E0728896
chrX135743039135743387E07210891
chrX135776311135776433E07244163
chrX135776548135777255E07244400
chrX135741710135741880E0739562
chrX135742345135742409E07410197
chrX135743039135743387E07410891