rs302665

Homo sapiens
A>G
RAB38 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0231 (6937/29918,GnomAD)
G=0219 (6382/29118,TOPMED)
G=0176 (883/5008,1000G)
G=0250 (962/3854,ALSPAC)
G=0256 (948/3708,TWINSUK)
chr11:88146459 (GRCh38.p7) (11q14.2)
AD
GWASdb2
2   publication(s)
See rs on genome
9 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.88146459A>G
GRCh37.p13 chr 11NC_000011.9:g.87879627A>G

Gene: RAB38, RAB38, member RAS oncogene family(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RAB38 transcriptNM_022337.2:c.N/AIntron Variant
RAB38 transcript variant X1XM_017017455.1:c.N/AIntron Variant
RAB38 transcript variant X2XM_017017456.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.903G=0.097
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.858G=0.142
1000GenomesEuropeSub1006A=0.737G=0.263
1000GenomesGlobalStudy-wide5008A=0.824G=0.176
1000GenomesSouth AsianSub978A=0.820G=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.750G=0.250
The Genome Aggregation DatabaseAfricanSub8714A=0.875G=0.125
The Genome Aggregation DatabaseAmericanSub838A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1598A=0.876G=0.124
The Genome Aggregation DatabaseEuropeSub18466A=0.710G=0.289
The Genome Aggregation DatabaseGlobalStudy-wide29918A=0.768G=0.231
The Genome Aggregation DatabaseOtherSub302A=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.780G=0.219
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.744G=0.256
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
27899424Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.Ferrari RJ Neurol Neurosurg Psychiatry

P-Value

SNP ID p-value Traits Study
rs3026655.93E-05alcohol dependence21703634

eQTL of rs302665 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 rs302665 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 )
chr118783843687838574E081-41053
chr118783863487838732E081-40895
chr118783877287838835E081-40792
chr118783889587839021E081-40606
chr118783918787839611E081-40016
chr118783967787839761E081-39866
chr118783981387839929E081-39698
chr118783998787840165E081-39462
chr118784027887840391E081-39236

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr118790754987909350E06727922
chr118790754987909350E06827922
chr118790754987909350E06927922
chr118790754987909350E07027922
chr118790754987909350E07127922
chr118790754987909350E08227922