rs11145381

Homo sapiens
T>C
VPS13A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0188 (5639/29964,GnomAD)
C=0175 (5101/29118,TOPMED)
C=0247 (1235/5008,1000G)
C=0224 (862/3854,ALSPAC)
C=0229 (849/3708,TWINSUK)
chr9:77300225 (GRCh38.p7) (9q21.2)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.77300225T>C
GRCh37.p13 chr 9NC_000009.11:g.79915141T>C
VPS13A RefSeqGeneNG_008931.1:g.127781T>C

Gene: VPS13A, vacuolar protein sorting 13 homolog A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VPS13A transcript variant CNM_001018037.1:c.N/AIntron Variant
VPS13A transcript variant DNM_001018038.2:c.N/AIntron Variant
VPS13A transcript variant BNM_015186.3:c.N/AIntron Variant
VPS13A transcript variant ANM_033305.2:c.N/AIntron Variant
VPS13A transcript variant X1XR_001746259.1:n.N/AIntron Variant
VPS13A transcript variant X2XR_001746260.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.974C=0.026
1000GenomesAmericanSub694T=0.630C=0.370
1000GenomesEast AsianSub1008T=0.592C=0.408
1000GenomesEuropeSub1006T=0.778C=0.222
1000GenomesGlobalStudy-wide5008T=0.753C=0.247
1000GenomesSouth AsianSub978T=0.690C=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.776C=0.224
The Genome Aggregation DatabaseAfricanSub8726T=0.948C=0.052
The Genome Aggregation DatabaseAmericanSub834T=0.580C=0.420
The Genome Aggregation DatabaseEast AsianSub1612T=0.599C=0.401
The Genome Aggregation DatabaseEuropeSub18490T=0.777C=0.223
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.811C=0.188
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.824C=0.175
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.771C=0.229
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs111453814.72E-05nicotine dependence17158188

eQTL of rs11145381 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 rs11145381 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.