rs2033316

Homo sapiens
A>G
EFEMP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0259 (7756/29912,GnomAD)
G=0315 (9174/29116,TOPMED)
G=0262 (1313/5008,1000G)
G=0223 (861/3854,ALSPAC)
G=0226 (837/3708,TWINSUK)
chr2:55913396 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.55913396A>G
GRCh37.p13 chr 2NC_000002.11:g.56140531A>G
EFEMP1 RefSeqGeneNG_009098.1:g.15402T>C

Gene: EFEMP1, EGF containing fibulin-like extracellular matrix protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EFEMP1 transcript variant 2NM_001039348.2:c.N/AIntron Variant
EFEMP1 transcript variant 3NM_001039349.2:c.N/AIntron Variant
EFEMP1 transcript variant X1XM_005264205.4:c.N/AIntron Variant
EFEMP1 transcript variant X2XM_017003586.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.547G=0.453
1000GenomesAmericanSub694A=0.770G=0.230
1000GenomesEast AsianSub1008A=0.971G=0.029
1000GenomesEuropeSub1006A=0.788G=0.212
1000GenomesGlobalStudy-wide5008A=0.738G=0.262
1000GenomesSouth AsianSub978A=0.680G=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.777G=0.223
The Genome Aggregation DatabaseAfricanSub8684A=0.559G=0.441
The Genome Aggregation DatabaseAmericanSub838A=0.780G=0.220
The Genome Aggregation DatabaseEast AsianSub1622A=0.977G=0.023
The Genome Aggregation DatabaseEuropeSub18466A=0.803G=0.196
The Genome Aggregation DatabaseGlobalStudy-wide29912A=0.740G=0.259
The Genome Aggregation DatabaseOtherSub302A=0.730G=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.684G=0.315
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.774G=0.226
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs20333167.3E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2033316 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 rs2033316 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 )
chr25611492556115616E067-24915
chr25610765056107926E068-32605
chr25610793156108359E068-32172
chr25612917656129249E068-11282
chr25612968256129887E068-10644
chr25611462956114755E069-25776
chr25611492556115616E069-24915
chr25611577756115837E069-24694
chr25611591156116500E069-24031
chr25611462956114755E070-25776
chr25611492556115616E070-24915
chr25611347056113550E071-26981
chr25611462956114755E071-25776
chr25611492556115616E071-24915
chr25611577756115837E071-24694
chr25611591156116500E071-24031
chr25611462956114755E073-25776
chr25611492556115616E073-24915
chr25611577756115837E073-24694
chr25610765056107926E074-32605
chr25610793156108359E074-32172
chr25611462956114755E074-25776
chr25611492556115616E074-24915
chr25611577756115837E074-24694
chr25611591156116500E074-24031
chr25614593856146295E0745407







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr25614963956150112E0679108
chr25615012756151233E0679596
chr25615126456151325E06710733
chr25614909756149157E0688566
chr25614924756149445E0688716
chr25614944756149581E0688916
chr25614963956150112E0689108
chr25615012756151233E0689596
chr25615126456151325E06810733
chr25615145356151761E06810922
chr25614924756149445E0698716
chr25614944756149581E0698916
chr25614963956150112E0699108
chr25615012756151233E0699596
chr25615126456151325E06910733
chr25615012756151233E0709596
chr25615126456151325E07010733
chr25614924756149445E0718716
chr25614944756149581E0718916
chr25614963956150112E0719108
chr25615012756151233E0719596
chr25615126456151325E07110733
chr25614924756149445E0728716
chr25614944756149581E0728916
chr25614963956150112E0729108
chr25615012756151233E0729596
chr25615126456151325E07210733
chr25614909756149157E0738566
chr25614924756149445E0738716
chr25614944756149581E0738916
chr25614963956150112E0739108
chr25615012756151233E0739596
chr25615126456151325E07310733
chr25614924756149445E0748716
chr25614944756149581E0748916
chr25614963956150112E0749108
chr25615012756151233E0749596
chr25615126456151325E07410733
chr25615145356151761E07410922
chr25614963956150112E0829108
chr25615012756151233E0829596
chr25615126456151325E08210733