rs2412546

Homo sapiens
G>A
RAD51 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0497 (14895/29930,GnomAD)
A=0447 (13022/29118,TOPMED)
G==0440 (2205/5008,1000G)
G==0491 (1892/3854,ALSPAC)
G==0493 (1829/3708,TWINSUK)
chr15:40714325 (GRCh38.p7) (15q15.1)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.40714325G>A
GRCh37.p13 chr 15NC_000015.9:g.41006523G>A
RAD51 RefSeqGeneNG_012120.1:g.24165G>A

Gene: RAD51, RAD51 recombinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RAD51 transcript variant 4NM_001164269.1:c.N/AIntron Variant
RAD51 transcript variant 3NM_001164270.1:c.N/AIntron Variant
RAD51 transcript variant 1NM_002875.4:c.N/AIntron Variant
RAD51 transcript variant 2NM_133487.3:c.N/AIntron Variant
RAD51 transcript variant X2XM_006720626.3:c.N/AIntron Variant
RAD51 transcript variant X1XM_011521857.2:c.N/AIntron Variant
RAD51 transcript variant X5XM_011521858.2:c.N/AIntron Variant
RAD51 transcript variant X3XM_011521859.2:c.N/AIntron Variant
RAD51 transcript variant X4XM_011521860.2:c.N/AIntron Variant
RAD51 transcript variant X6XM_011521861.2:c.N/AIntron Variant
RAD51 transcript variant X7XM_011521862.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.644A=0.356
1000GenomesAmericanSub694G=0.360A=0.640
1000GenomesEast AsianSub1008G=0.244A=0.756
1000GenomesEuropeSub1006G=0.504A=0.496
1000GenomesGlobalStudy-wide5008G=0.440A=0.560
1000GenomesSouth AsianSub978G=0.360A=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.491A=0.509
The Genome Aggregation DatabaseAfricanSub8728G=0.628A=0.372
The Genome Aggregation DatabaseAmericanSub834G=0.330A=0.670
The Genome Aggregation DatabaseEast AsianSub1618G=0.229A=0.771
The Genome Aggregation DatabaseEuropeSub18448G=0.467A=0.532
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.497A=0.502
The Genome Aggregation DatabaseOtherSub302G=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.552A=0.447
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.493A=0.507
PMID Title Author Journal
18974064Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility.Ding SLCarcinogenesis
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
rs24125460.000702alcohol dependence21314694

eQTL of rs2412546 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:41006523C15orf57ENSG00000128891.11G>A9.1956e-14149267Cerebellum
Chr15:41006523ZFYVE19ENSG00000166140.13G>A4.9357e-13-92761Cerebellum
Chr15:41006523C15orf57ENSG00000128891.11G>A1.1352e-11149267Hypothalamus
Chr15:41006523C15orf57ENSG00000128891.11G>A1.6265e-9149267Substantia_nigra
Chr15:41006523C15orf57ENSG00000128891.11G>A3.6290e-8149267Anterior_cingulate_cortex
Chr15:41006523C15orf57ENSG00000128891.11G>A4.3896e-11149267Amygdala

meQTL of rs2412546 in Fetal Brain

Probe ID Position Gene beta p-value
cg25498107chr15:41100233DNAJC17|ZFYVE190.06701080374488191.0845e-9
cg13045913chr15:41100308DNAJC17|ZFYVE190.06795027440393858.8044e-9

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 )
chr154098584040985923E067-20600
chr154104423641044286E06737713
chr154104495841045025E06738435
chr154104583941046159E06739316
chr154105518141055284E06848658
chr154098584040985923E069-20600
chr154103923841039509E06932715
chr154103977941040387E06933256
chr154104495841045025E07038435
chr154104583941046159E07039316
chr154105471341054802E07048190
chr154105483941054952E07048316
chr154105495441055015E07048431
chr154105518141055284E07048658
chr154103923841039509E07132715
chr154103977941040387E07133256
chr154104041341040735E07133890
chr154104583941046159E07139316
chr154098584040985923E074-20600
chr154105518141055284E07448658
chr154098584040985923E081-20600
chr154104583941046159E08139316
chr154105495441055015E08148431
chr154105518141055284E08148658
chr154105495441055015E08248431
chr154105518141055284E08248658








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr154098636540988129E067-18394
chr154104662741048322E06740104
chr154098636540988129E068-18394
chr154104662741048322E06840104
chr154098636540988129E069-18394
chr154104662741048322E06940104
chr154098636540988129E070-18394
chr154098820840988258E070-18265
chr154098848240988564E070-17959
chr154104662741048322E07040104
chr154098636540988129E071-18394
chr154104662741048322E07140104
chr154098636540988129E072-18394
chr154104662741048322E07240104
chr154098636540988129E073-18394
chr154104662741048322E07340104
chr154098636540988129E074-18394
chr154104662741048322E07440104
chr154098636540988129E081-18394
chr154104662741048322E08140104
chr154098636540988129E082-18394
chr154098820840988258E082-18265
chr154098848240988564E082-17959
chr154104662741048322E08240104