rs4918853

Homo sapiens
T>C
HABP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0251 (7541/29950,GnomAD)
T==0297 (8658/29118,TOPMED)
T==0244 (1222/5008,1000G)
T==0173 (667/3854,ALSPAC)
T==0161 (596/3708,TWINSUK)
chr10:113570371 (GRCh38.p7) (10q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.113570371T>C
GRCh37.p13 chr 10NC_000010.10:g.115330130T>C
HABP2 RefSeqGeneNG_008956.1:g.22353T>C

Gene: HABP2, hyaluronan binding protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HABP2 transcript variant 2NM_001177660.2:c.N/AIntron Variant
HABP2 transcript variant 1NM_004132.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.511C=0.489
1000GenomesAmericanSub694T=0.160C=0.840
1000GenomesEast AsianSub1008T=0.079C=0.921
1000GenomesEuropeSub1006T=0.186C=0.814
1000GenomesGlobalStudy-wide5008T=0.244C=0.756
1000GenomesSouth AsianSub978T=0.170C=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.173C=0.827
The Genome Aggregation DatabaseAfricanSub8718T=0.432C=0.568
The Genome Aggregation DatabaseAmericanSub836T=0.120C=0.880
The Genome Aggregation DatabaseEast AsianSub1620T=0.044C=0.956
The Genome Aggregation DatabaseEuropeSub18474T=0.191C=0.808
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.251C=0.748
The Genome Aggregation DatabaseOtherSub302T=0.190C=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.297C=0.702
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.161C=0.839
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
rs49188530.000692alcohol dependence21314694

eQTL of rs4918853 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 rs4918853 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 )
chr10115374384115374434E06744254
chr10115374582115374632E06744452
chr10115374709115374769E06744579
chr10115312514115312706E068-17424
chr10115312769115312831E068-17299
chr10115317708115318551E068-11579
chr10115371870115371967E06841740
chr10115371989115372170E06841859
chr10115374090115374373E06843960
chr10115374384115374434E06844254
chr10115374582115374632E06844452
chr10115374709115374769E06844579
chr10115374384115374434E06944254
chr10115374582115374632E06944452
chr10115317708115318551E070-11579
chr10115370658115370728E07040528
chr10115370798115371340E07040668
chr10115374582115374632E07144452
chr10115374582115374632E07244452
chr10115374709115374769E07244579
chr10115282385115282487E073-47643
chr10115282682115282736E073-47394
chr10115282796115282894E073-47236
chr10115322750115322890E073-7240
chr10115374384115374434E07344254
chr10115373370115373410E07443240
chr10115373431115373489E07443301
chr10115317708115318551E081-11579