rs4955672

Homo sapiens
C>G
SERPINI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0382 (11424/29894,GnomAD)
G=0350 (10192/29118,TOPMED)
G=0398 (1991/5008,1000G)
G=0372 (1434/3854,ALSPAC)
G=0373 (1382/3708,TWINSUK)
chr3:167457459 (GRCh38.p7) (3q26.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.167457459C>G
GRCh37.p13 chr 3NC_000003.11:g.167175247C>G

Gene: SERPINI2, serpin family I member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SERPINI2 transcript variant 1NM_001012303.2:c.N/AIntron Variant
SERPINI2 transcript variant 2NM_006217.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.678G=0.322
1000GenomesAmericanSub694C=0.620G=0.380
1000GenomesEast AsianSub1008C=0.497G=0.503
1000GenomesEuropeSub1006C=0.599G=0.401
1000GenomesGlobalStudy-wide5008C=0.602G=0.398
1000GenomesSouth AsianSub978C=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.628G=0.372
The Genome Aggregation DatabaseAfricanSub8688C=0.674G=0.326
The Genome Aggregation DatabaseAmericanSub838C=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1616C=0.499G=0.501
The Genome Aggregation DatabaseEuropeSub18450C=0.598G=0.401
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.617G=0.382
The Genome Aggregation DatabaseOtherSub302C=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.650G=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.627G=0.373
PMID Title Author Journal
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
rs49556720.000956alcohol dependence21314694

eQTL of rs4955672 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 rs4955672 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 )
chr3167185811167186319E06810564