rs994429

Homo sapiens
T>A / T>G
FAM134B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0334 (10000/29916,GnomAD)
A=0307 (8951/29118,TOPMED)
A=0290 (1454/5008,1000G)
A=0429 (1654/3854,ALSPAC)
A=0423 (1570/3708,TWINSUK)
chr5:16552290 (GRCh38.p7) (5p15.1)
CD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.16552290T>A
GRCh38.p7 chr 5NC_000005.10:g.16552290T>G
GRCh37.p13 chr 5NC_000005.9:g.16552399T>A
GRCh37.p13 chr 5NC_000005.9:g.16552399T>G
RETREG1 RefSeqGene LRG_363
RETREG1 RefSeqGene LRG_363

Gene: FAM134B, family with sequence similarity 134 member B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RETREG1 transcript variant 1NM_001034850.2:c.N/AIntron Variant
RETREG1 transcript variant 2NM_019000.4:c.N/AGenic Upstream Transcript Variant
FAM134B transcript variant X1XM_011514053.2:c.N/AIntron Variant
RETREG1 transcript variant X2XM_011514054.2:c.N/AGenic Upstream Transcript Variant
FAM134B transcript variant X3XM_011514055.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.931A=0.069
1000GenomesAmericanSub694T=0.590A=0.410
1000GenomesEast AsianSub1008T=0.635A=0.365
1000GenomesEuropeSub1006T=0.545A=0.455
1000GenomesGlobalStudy-wide5008T=0.710A=0.290
1000GenomesSouth AsianSub978T=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.571A=0.429
The Genome Aggregation DatabaseAfricanSub8714T=0.877A=0.123
The Genome Aggregation DatabaseAmericanSub838T=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1606T=0.642A=0.358
The Genome Aggregation DatabaseEuropeSub18456T=0.572A=0.427
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.665A=0.334
The Genome Aggregation DatabaseOtherSub302T=0.590A=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.692A=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.577A=0.423
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs9944296.74E-05cocaine dependence23958962

eQTL of rs994429 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:16552399FAM134BENSG00000154153.9T>A3.4909e-14-64768Cerebellum
Chr5:16552399CTC-461F20.1ENSG00000250415.1T>A1.1680e-6-64935Cerebellum
Chr5:16552399FAM134BENSG00000154153.9T>A1.8853e-15-64768Cerebellar_Hemisphere

meQTL of rs994429 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 )
chr52539336225393787E081-33187
chr52544820625448753E08121232
chr52544877925448970E08121805
chr52539336225393787E082-33187
chr52544820625448753E08221232
chr52544877925448970E08221805