rs17805141

Homo sapiens
C>T
STEAP3 : Synonymous Variant
STEAP3-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0053 (6387/120142,ExAC)
T=0039 (1184/29948,GnomAD)
T=0036 (1048/29116,TOPMED)
C==0044 (580/13006,GO-ESP)
T=0039 (193/5008,1000G)
T=0060 (232/3854,ALSPAC)
T=0057 (211/3708,TWINSUK)
chr2:119247993 (GRCh38.p7) (2q14.2)
CD
GWASdb2
1   publication(s)
See rs on genome
120 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119247993C>T
GRCh37.p13 chr 2NC_000002.11:g.120005569C>T
STEAP3 RefSeqGeneNG_042823.1:g.29186C>T

Gene: STEAP3, STEAP3 metalloreductase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
STEAP3 transcript variant 1NM_182915.2:c.837C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform aNP_878919.2:p.Leu...NP_878919.2:p.Leu279=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant 3NM_001008410.1:c....NM_001008410.1:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform bNP_001008410.1:p....NP_001008410.1:p.Leu269=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant 2NM_018234.2:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform bNP_060704.2:p.Leu...NP_060704.2:p.Leu269=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant 4NM_138637.2:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform cNP_619543.2:p.Leu...NP_619543.2:p.Leu269=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant X3XM_006712615.1:c....XM_006712615.1:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform X1XP_006712678.1:p....XP_006712678.1:p.Leu269=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant X1XM_011511403.1:c....XM_011511403.1:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform X1XP_011509705.1:p....XP_011509705.1:p.Leu269=L [Leu]> L [Leu]Synonymous Variant
STEAP3 transcript variant X2XM_006712614.3:c....XM_006712614.3:c.807C>TL [CTC]> L [CTT]Coding Sequence Variant
metalloreductase STEAP3 isoform X1XP_006712677.1:p....XP_006712677.1:p.Leu269=L [Leu]> L [Leu]Synonymous Variant

Gene: STEAP3-AS1, STEAP3 antisense RNA 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
STEAP3-AS1 transcriptNR_046721.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.991T=0.009
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=0.986T=0.014
1000GenomesEuropeSub1006C=0.937T=0.063
1000GenomesGlobalStudy-wide5008C=0.961T=0.039
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940T=0.060
The Exome Aggregation ConsortiumAmericanSub21760C=0.982T=0.017
The Exome Aggregation ConsortiumAsianSub25058C=0.934T=0.065
The Exome Aggregation ConsortiumEuropeSub72438C=0.940T=0.059
The Exome Aggregation ConsortiumGlobalStudy-wide120142C=0.946T=0.053
The Exome Aggregation ConsortiumOtherSub886C=0.930T=0.070
The Genome Aggregation DatabaseAfricanSub8720C=0.980T=0.020
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622C=0.997T=0.003
The Genome Aggregation DatabaseEuropeSub18466C=0.947T=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.960T=0.039
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.964T=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.943T=0.057
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
rs178051411.84E-05cocaine dependence23958962

eQTL of rs17805141 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 rs17805141 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 )
chr2119987951119988031E067-17538
chr2119988281119988629E067-16940
chr2119988647119988858E067-16711
chr2119997988119998714E067-6855
chr2120016741120017409E06711172
chr2120033851120033910E06728282
chr2120039877120040015E06734308
chr2120040063120040126E06734494
chr2120040327120040587E06734758
chr2120040649120040757E06735080
chr2120040795120040979E06735226
chr2120041318120041395E06735749
chr2119987346119987925E068-17644
chr2119987951119988031E068-17538
chr2119988281119988629E068-16940
chr2119997988119998714E068-6855
chr2120010177120011230E0684608
chr2120016741120017409E06811172
chr2120034540120034612E06828971
chr2120034646120034721E06829077
chr2120039877120040015E06834308
chr2120040063120040126E06834494
chr2120040327120040587E06834758
chr2120040649120040757E06835080
chr2120040795120040979E06835226
chr2120041318120041395E06835749
chr2120046606120046703E06841037
chr2120046813120046944E06841244
chr2119969860119969977E069-35592
chr2119970070119970124E069-35445
chr2119997988119998714E069-6855
chr2120013127120013337E0697558
chr2120013343120013872E0697774
chr2120016741120017409E06911172
chr2120039877120040015E06934308
chr2120040063120040126E06934494
chr2120040327120040587E06934758
chr2120041318120041395E06935749
chr2120041427120041983E06935858
chr2120049699120049887E06944130
chr2119969860119969977E070-35592
chr2119970070119970124E070-35445
chr2119987346119987925E070-17644
chr2119987951119988031E070-17538
chr2120012911120012961E0707342
chr2120013127120013337E0707558
chr2120013343120013872E0707774
chr2120014076120014412E0708507
chr2120014897120015074E0709328
chr2120015872120016015E07010303
chr2120018386120018474E07012817
chr2120018652120018748E07013083
chr2120018789120018880E07013220
chr2120018973120019067E07013404
chr2120033851120033910E07028282
chr2120039877120040015E07034308
chr2120040063120040126E07034494
chr2120040327120040587E07034758
chr2120040649120040757E07035080
chr2120040795120040979E07035226
chr2120041318120041395E07035749
chr2120041427120041983E07035858
chr2120048514120048775E07042945
chr2119969860119969977E071-35592
chr2119982730119982964E071-22605
chr2119983142119983431E071-22138
chr2119987346119987925E071-17644
chr2119988281119988629E071-16940
chr2119997988119998714E071-6855
chr2120013127120013337E0717558
chr2120013343120013872E0717774
chr2120013977120014066E0718408
chr2120014076120014412E0718507
chr2120016741120017409E07111172
chr2120039877120040015E07134308
chr2120040063120040126E07134494
chr2120040327120040587E07134758
chr2120040649120040757E07135080
chr2120040795120040979E07135226
chr2120041318120041395E07135749
chr2120049699120049887E07144130
chr2119969860119969977E072-35592
chr2119970070119970124E072-35445
chr2119987346119987925E072-17644
chr2119987951119988031E072-17538
chr2119988281119988629E072-16940
chr2119997988119998714E072-6855
chr2120013343120013872E0727774
chr2120016741120017409E07211172
chr2120040327120040587E07234758
chr2120040649120040757E07235080
chr2120040795120040979E07235226
chr2120041318120041395E07235749
chr2120046606120046703E07241037
chr2120046813120046944E07241244
chr2120047371120047440E07241802
chr2120049699120049887E07244130
chr2119982730119982964E073-22605
chr2119997988119998714E073-6855
chr2120016741120017409E07311172
chr2120039877120040015E07334308
chr2120040063120040126E07334494
chr2120040327120040587E07334758
chr2120041318120041395E07335749
chr2120049699120049887E07344130
chr2119987346119987925E074-17644
chr2119987951119988031E074-17538
chr2119997988119998714E074-6855
chr2120016741120017409E07411172
chr2120039877120040015E07434308
chr2120040063120040126E07434494
chr2120041318120041395E07435749
chr2119997988119998714E081-6855
chr2120013343120013872E0817774
chr2120014076120014412E0818507
chr2120040327120040587E08134758
chr2120040649120040757E08135080
chr2120040795120040979E08135226
chr2119997988119998714E082-6855
chr2120018652120018748E08213083










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2119981032119981723E067-23846
chr2119981782119981894E067-23675
chr2119982036119982187E067-23382
chr2119981032119981723E068-23846
chr2119981782119981894E068-23675
chr2119982036119982187E068-23382
chr2119981032119981723E069-23846
chr2119981782119981894E069-23675
chr2119981032119981723E070-23846
chr2119981032119981723E071-23846
chr2119981032119981723E072-23846
chr2119981032119981723E073-23846
chr2119981782119981894E073-23675
chr2119982036119982187E073-23382
chr2119981032119981723E074-23846
chr2119981782119981894E074-23675
chr2119982036119982187E074-23382
chr2119981032119981723E082-23846
chr2119981782119981894E082-23675