rs1438339

Homo sapiens
C>T
RBMS3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0293 (8789/29942,GnomAD)
T=0387 (11268/29118,TOPMED)
T=0385 (1929/5008,1000G)
T=0191 (738/3854,ALSPAC)
T=0185 (687/3708,TWINSUK)
chr3:29440555 (GRCh38.p7) (3p24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.29440555C>T
GRCh37.p13 chr 3NC_000003.11:g.29482046C>T

Gene: RBMS3, RNA binding motif single stranded interacting protein 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBMS3 transcript variant 3NM_001003792.2:c.N/AIntron Variant
RBMS3 transcript variant 1NM_001003793.2:c.N/AIntron Variant
RBMS3 transcript variant 5NM_001177711.1:c.N/AIntron Variant
RBMS3 transcript variant 4NM_001177712.1:c.N/AIntron Variant
RBMS3 transcript variant 2NM_014483.3:c.N/AIntron Variant
RBMS3 transcript variant X1XM_005265060.2:c.N/AIntron Variant
RBMS3 transcript variant X5XM_005265061.2:c.N/AIntron Variant
RBMS3 transcript variant X6XM_005265062.1:c.N/AIntron Variant
RBMS3 transcript variant X3XM_017006178.1:c.N/AIntron Variant
RBMS3 transcript variant X4XM_017006179.1:c.N/AIntron Variant
RBMS3 transcript variant X7XM_017006180.1:c.N/AIntron Variant
RBMS3 transcript variant X8XM_017006181.1:c.N/AIntron Variant
RBMS3 transcript variant X9XM_017006182.1:c.N/AIntron Variant
RBMS3 transcript variant X9XM_005265063.1:c.N/AGenic Upstream Transcript Variant
RBMS3 transcript variant X10XM_005265065.4:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.373T=0.627
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.678T=0.322
1000GenomesEuropeSub1006C=0.813T=0.187
1000GenomesGlobalStudy-wide5008C=0.615T=0.385
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.809T=0.191
The Genome Aggregation DatabaseAfricanSub8708C=0.425T=0.575
The Genome Aggregation DatabaseAmericanSub836C=0.630T=0.370
The Genome Aggregation DatabaseEast AsianSub1612C=0.697T=0.303
The Genome Aggregation DatabaseEuropeSub18484C=0.842T=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.706T=0.293
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.613T=0.387
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.815T=0.185
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs14383390.000556alcohol dependence24277619

eQTL of rs1438339 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 rs1438339 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 )
chr32949454729496462E06712501
chr32949454729496462E06912501
chr32945180229452066E070-29980
chr32947081829470944E070-11102
chr32949454729496462E07012501
chr32951628929516359E07034243
chr32951649429516594E07034448
chr32951695929517118E07034913
chr32951740929517655E07035363
chr32948972429489918E0717678
chr32948972429489918E0727678
chr32949454729496462E07212501
chr32949654729496650E07214501
chr32949454729496462E07312501
chr32948972429489918E0747678
chr32950771929508239E07425673
chr32946794629468023E081-14023
chr32946817629468229E081-13817
chr32946829629468401E081-13645
chr32946919429469749E081-12297
chr32947081829470944E081-11102
chr32949454729496462E08212501









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr32948179229482729E0670
chr32948179229482729E0680
chr32948179229482729E0690
chr32948179229482729E0710
chr32948179229482729E0740