rs6949887

Homo sapiens
G>A
ORC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0088 (2645/29924,GnomAD)
A=0125 (3654/29118,TOPMED)
A=0100 (499/5008,1000G)
A=0055 (212/3854,ALSPAC)
A=0066 (243/3708,TWINSUK)
chr7:104196893 (GRCh38.p7) (7q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.104196893G>A
GRCh37.p13 chr 7NC_000007.13:g.103837341G>A
ORC5 RefSeqGeneNG_029899.1:g.16155C>T

Gene: ORC5, origin recognition complex, subunit 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ORC5 transcript variant 1NM_002553.3:c.N/AIntron Variant
ORC5 transcript variant 2NM_181747.3:c.N/AIntron Variant
ORC5 transcript variant X1XM_011516273.2:c.N/AIntron Variant
ORC5 transcript variant X2XR_001744792.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.765A=0.235
1000GenomesAmericanSub694G=0.940A=0.060
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.952A=0.048
1000GenomesGlobalStudy-wide5008G=0.900A=0.100
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.945A=0.055
The Genome Aggregation DatabaseAfricanSub8708G=0.787A=0.213
The Genome Aggregation DatabaseAmericanSub832G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1612G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18470G=0.959A=0.040
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.911A=0.088
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.874A=0.125
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.934A=0.066
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
rs69498870.000583alcohol dependence20201924

eQTL of rs6949887 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 rs6949887 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 )
chr7103871478103872454E06734137
chr7103815828103816012E069-21329
chr7103816168103816279E069-21062
chr7103816304103817170E069-20171
chr7103817466103817537E069-19804
chr7103871478103872454E06934137
chr7103870610103870675E07033269
chr7103880207103880262E07042866
chr7103880517103880571E07043176
chr7103880576103880616E07043235
chr7103880755103881436E07043414
chr7103883650103883731E07046309
chr7103883752103883812E07046411
chr7103884184103884247E07046843
chr7103816304103817170E071-20171
chr7103817466103817537E072-19804
chr7103871478103872454E07234137
chr7103883650103883731E07346309
chr7103871478103872454E07434137
chr7103871104103871367E08133763
chr7103871478103872454E08134137
chr7103880207103880262E08142866
chr7103880517103880571E08143176
chr7103880576103880616E08143235
chr7103880755103881436E08143414
chr7103883650103883731E08146309
chr7103883752103883812E08146411
chr7103884184103884247E08146843
chr7103871104103871367E08233763
chr7103880576103880616E08243235
chr7103880755103881436E08243414
chr7103883650103883731E08246309
chr7103883752103883812E08246411
chr7103884184103884247E08246843









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7103847408103849279E06710067
chr7103847408103849279E06810067
chr7103847408103849279E06910067
chr7103847408103849279E07010067
chr7103847408103849279E07110067
chr7103847408103849279E07210067
chr7103847408103849279E07310067
chr7103847408103849279E07410067
chr7103847408103849279E08110067
chr7103847408103849279E08210067