rs6413436

Homo sapiens
A>G
RAD52 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0366 (10959/29936,GnomAD)
G=0331 (9642/29118,TOPMED)
G=0374 (1875/5008,1000G)
A==0340 (1554/4566,GO-ESP)
G=0400 (1543/3854,ALSPAC)
G=0390 (1447/3708,TWINSUK)
chr12:913513 (GRCh38.p7) (12p13.33)
AD
GWASdb2
2   publication(s)
See rs on genome
43 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.913513A>G
GRCh37.p13 chr 12NC_000012.11:g.1022679A>G
RAD52 RefSeqGeneNG_017078.2:g.81529T>C

Gene: RAD52, RAD52 homolog, DNA repair protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RAD52 transcript variant 2NM_001297419.1:c.N/AIntron Variant
RAD52 transcript variant 4NM_001297421.1:c.N/AIntron Variant
RAD52 transcript variant 1NM_134424.3:c.N/AIntron Variant
RAD52 transcript variant 3NM_001297420.1:c.N/AGenic Downstream Transcript Variant
RAD52 transcript variant 5NM_001297422.1:c.N/AGenic Downstream Transcript Variant
RAD52 transcript variant 6NR_123713.1:n.N/AIntron Variant
RAD52 transcript variant X4XM_005253720.4:c.N/AIntron Variant
RAD52 transcript variant X2XM_005253721.2:c.N/AIntron Variant
RAD52 transcript variant X3XM_011520990.2:c.N/AIntron Variant
RAD52 transcript variant X5XM_011520991.2:c.N/AIntron Variant
RAD52 transcript variant X8XM_011520995.2:c.N/AIntron Variant
RAD52 transcript variant X1XM_017019769.1:c.N/AIntron Variant
RAD52 transcript variant X6XM_017019770.1:c.N/AIntron Variant
RAD52 transcript variant X7XM_011520993.2:c.N/AGenic Downstream Transcript Variant
RAD52 transcript variant X11XM_017019771.1:c.N/AGenic Downstream Transcript Variant
RAD52 transcript variant X9XR_001748836.1:n.N/AIntron Variant
RAD52 transcript variant X12XR_001748837.1:n.N/AIntron Variant
RAD52 transcript variant X13XR_001748838.1:n.N/AIntron Variant
RAD52 transcript variant X14XR_001748839.1:n.N/AIntron Variant
RAD52 transcript variant X10XR_931522.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.788G=0.212
1000GenomesAmericanSub694A=0.510G=0.490
1000GenomesEast AsianSub1008A=0.463G=0.537
1000GenomesEuropeSub1006A=0.624G=0.376
1000GenomesGlobalStudy-wide5008A=0.626G=0.374
1000GenomesSouth AsianSub978A=0.650G=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.600G=0.400
The Genome Aggregation DatabaseAfricanSub8710A=0.732G=0.268
The Genome Aggregation DatabaseAmericanSub838A=0.480G=0.520
The Genome Aggregation DatabaseEast AsianSub1608A=0.458G=0.542
The Genome Aggregation DatabaseEuropeSub18478A=0.609G=0.390
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.633G=0.366
The Genome Aggregation DatabaseOtherSub302A=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.668G=0.331
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.610G=0.390
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
22454423Genetic variations and patient-reported quality of life among patients with lung cancer.Sloan JAJ Clin Oncol

P-Value

SNP ID p-value Traits Study
rs64134360.00000895alcoholismpha002892
rs64134360.000009alcohol dependence(early age of onset)20201924
rs64134360.00049alcohol dependence20201924

eQTL of rs6413436 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 rs6413436 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 )
chr12987419987505E067-35174
chr12987552987639E067-35040
chr1210063711006421E067-16258
chr1210064231006510E067-16169
chr1210066671006727E067-15952
chr1210070091007059E067-15620
chr1210128061012880E067-9799
chr1210130601013110E067-9569
chr1210131421013568E067-9111
chr1210146271014684E067-7995
chr1210147501015218E067-7461
chr1210556361055705E06732957
chr1210130601013110E068-9569
chr1210131421013568E068-9111
chr1210145021014620E068-8059
chr1210146271014684E068-7995
chr1210147501015218E068-7461
chr1210063711006421E069-16258
chr1210064231006510E069-16169
chr1210066671006727E069-15952
chr1210141011014153E069-8526
chr1210141751014215E069-8464
chr1210145021014620E069-8059
chr1210146271014684E069-7995
chr1210147501015218E069-7461
chr1210571581057382E06934479
chr12980525980585E071-42094
chr1210131421013568E071-9111
chr1210136811013731E071-8948
chr1210229931023043E071314
chr1210232071023920E071528
chr1210571581057382E07134479
chr1210130601013110E072-9569
chr1210131421013568E072-9111
chr1210136811013731E072-8948
chr1210138021013852E072-8827
chr1210141011014153E072-8526
chr1210141751014215E072-8464
chr1210054411005495E073-17184
chr1210063711006421E074-16258
chr1210064231006510E074-16169
chr1210066671006727E074-15952
chr1210241071024646E0741428







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1210574991059547E06734820
chr1210574991059547E06834820
chr1210574991059547E06934820
chr1210574991059547E07034820
chr1210574991059547E07134820
chr1210574991059547E07234820
chr1210574991059547E07334820
chr1210574991059547E07434820
chr1210574991059547E08134820
chr1210574991059547E08234820