rs6712333

Homo sapiens
C>T
SP140L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0260 (7770/29790,GnomAD)
T=0304 (8871/29118,TOPMED)
T=0402 (2015/5008,1000G)
T=0121 (468/3854,ALSPAC)
T=0115 (428/3708,TWINSUK)
chr2:230365456 (GRCh38.p7) (2q37.1)
AD | ND
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
7 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.230365456C>T
GRCh37.p13 chr 2NC_000002.11:g.231230171C>T

Gene: SP140L, SP140 nuclear body protein like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SP140L transcript variant 2NM_001308162.1:c.N/AIntron Variant
SP140L transcript variant 3NM_001308163.1:c.N/AIntron Variant
SP140L transcript variant 1NM_138402.4:c.N/AIntron Variant
SP140L transcript variant X8XM_006712855.2:c.N/AIntron Variant
SP140L transcript variant X7XM_006712856.2:c.N/AIntron Variant
SP140L transcript variant X10XM_006712858.3:c.N/AIntron Variant
SP140L transcript variant X12XM_011512190.2:c.N/AIntron Variant
SP140L transcript variant X13XM_011512191.1:c.N/AIntron Variant
SP140L transcript variant X1XM_017005294.1:c.N/AIntron Variant
SP140L transcript variant X2XM_017005295.1:c.N/AIntron Variant
SP140L transcript variant X3XM_017005296.1:c.N/AIntron Variant
SP140L transcript variant X4XM_017005297.1:c.N/AIntron Variant
SP140L transcript variant X5XM_017005298.1:c.N/AIntron Variant
SP140L transcript variant X6XM_017005299.1:c.N/AIntron Variant
SP140L transcript variant X7XM_017005300.1:c.N/AIntron Variant
SP140L transcript variant X15XM_017005301.1:c.N/AIntron Variant
SP140L transcript variant X9XR_001739075.1:n.N/AIntron Variant
SP140L transcript variant X14XR_001739076.1:n.N/AIntron Variant
SP140L transcript variant X11XR_923066.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.485T=0.515
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.444T=0.556
1000GenomesEuropeSub1006C=0.870T=0.130
1000GenomesGlobalStudy-wide5008C=0.598T=0.402
1000GenomesSouth AsianSub978C=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.879T=0.121
The Genome Aggregation DatabaseAfricanSub8688C=0.518T=0.482
The Genome Aggregation DatabaseAmericanSub836C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1610C=0.427T=0.573
The Genome Aggregation DatabaseEuropeSub18354C=0.876T=0.123
The Genome Aggregation DatabaseGlobalStudy-wide29790C=0.739T=0.260
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.695T=0.304
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.885T=0.115
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs67123330.000005nicotine use23942779
rs67123330.000061alcohol dependence23942779

eQTL of rs6712333 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 rs6712333 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 )
chr2231274886231274936E06744715
chr2231277440231277610E06847269
chr2231277727231277913E06847556
chr2231274294231274458E07144123
chr2231274580231274694E07144409
chr2231274886231274936E07144715
chr2231277440231277610E07447269




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2231191480231192601E067-37570
chr2231275919231277172E06745748
chr2231191480231192601E068-37570
chr2231275919231277172E06845748
chr2231191480231192601E069-37570
chr2231275919231277172E06945748
chr2231275919231277172E07045748
chr2231191480231192601E071-37570
chr2231275919231277172E07145748
chr2231191480231192601E072-37570
chr2231275919231277172E07245748
chr2231191480231192601E073-37570
chr2231275919231277172E07345748
chr2231191480231192601E074-37570
chr2231275919231277172E07445748
chr2231275919231277172E08145748
chr2231275919231277172E08245748