rs1830084

Homo sapiens
A>T
SRPRB : Intron Variant
LOC105374116 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0284 (8504/29940,GnomAD)
T=0266 (7766/29118,TOPMED)
T=0324 (1623/5008,1000G)
T=0328 (1266/3854,ALSPAC)
T=0329 (1219/3708,TWINSUK)
chr3:133789620 (GRCh38.p7) (3q22.1)
AD
GWASdb2
6   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133789620A>T
GRCh37.p13 chr 3NC_000003.11:g.133508464A>T

Gene: SRPRB, SRP receptor beta subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SRPRB transcriptNM_021203.3:c.N/AIntron Variant

Gene: LOC105374116, uncharacterized LOC105374116(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374116 transcript variant X1XR_924512.2:n.N/AIntron Variant
LOC105374116 transcript variant X2XR_924513.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.889T=0.111
1000GenomesAmericanSub694A=0.600T=0.400
1000GenomesEast AsianSub1008A=0.537T=0.463
1000GenomesEuropeSub1006A=0.659T=0.341
1000GenomesGlobalStudy-wide5008A=0.676T=0.324
1000GenomesSouth AsianSub978A=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.672T=0.328
The Genome Aggregation DatabaseAfricanSub8710A=0.835T=0.165
The Genome Aggregation DatabaseAmericanSub832A=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1614A=0.558T=0.442
The Genome Aggregation DatabaseEuropeSub18482A=0.681T=0.318
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.716T=0.284
The Genome Aggregation DatabaseOtherSub302A=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.733T=0.266
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.671T=0.329
PMID Title Author Journal
27437086Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.Eom SYToxicol Res
23996192Toenail iron, genetic determinants of iron status, and the risk of glioma.Anic GMCancer Causes Control
26597663Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study.Sorensen ETransfusion
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
19084217Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.Benyamin BAm J Hum Genet
22761678Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.McLaren CEPLoS One

P-Value

SNP ID p-value Traits Study
rs18300841.93E-12alcohol consumption21665994

eQTL of rs1830084 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 rs1830084 in Fetal Brain

Probe ID Position Gene beta p-value
cg16414030chr3:133502952-0.1246183360005651.6346e-50
cg01448562chr3:133502909-0.07925813029937413.0925e-47
cg08048268chr3:133502702-0.1787584873097733.2244e-46
cg16275903chr3:133524006SRPRB0.07473161782505612.6718e-35
cg11941060chr3:133502564-0.08713767949308114.0798e-31
cg08439880chr3:133502540-0.09106923297336396.6772e-28
cg20276088chr3:133502917-0.04529997213600891.8034e-27

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 )
chr3133461397133461916E067-46548
chr3133461945133462055E067-46409
chr3133464069133464119E067-44345
chr3133464448133464526E067-43938
chr3133482923133483028E067-25436
chr3133483054133483594E067-24870
chr3133483998133484070E067-24394
chr3133464069133464119E068-44345
chr3133482562133482616E068-25848
chr3133482923133483028E068-25436
chr3133483054133483594E068-24870
chr3133461397133461916E069-46548
chr3133461945133462055E069-46409
chr3133464069133464119E069-44345
chr3133473014133473073E069-35391
chr3133473315133473659E069-34805
chr3133476260133476458E069-32006
chr3133482562133482616E069-25848
chr3133482923133483028E069-25436
chr3133483054133483594E069-24870
chr3133483998133484070E069-24394
chr3133484337133484387E069-24077
chr3133540603133541021E06932139
chr3133541191133541245E06932727
chr3133482923133483028E070-25436
chr3133483054133483594E070-24870
chr3133547093133547193E07038629
chr3133547516133547745E07039052
chr3133547924133548172E07039460
chr3133461397133461916E071-46548
chr3133461945133462055E071-46409
chr3133464069133464119E071-44345
chr3133473014133473073E071-35391
chr3133473315133473659E071-34805
chr3133482562133482616E071-25848
chr3133482923133483028E071-25436
chr3133483054133483594E071-24870
chr3133483998133484070E071-24394
chr3133484337133484387E071-24077
chr3133540337133540417E07131873
chr3133461397133461916E072-46548
chr3133461945133462055E072-46409
chr3133464069133464119E072-44345
chr3133464448133464526E072-43938
chr3133473014133473073E072-35391
chr3133482923133483028E072-25436
chr3133483054133483594E072-24870
chr3133483998133484070E072-24394
chr3133484337133484387E072-24077
chr3133461397133461916E073-46548
chr3133461945133462055E073-46409
chr3133464448133464526E073-43938
chr3133482923133483028E073-25436
chr3133483054133483594E073-24870
chr3133540006133540074E07331542
chr3133540337133540417E07331873
chr3133540603133541021E07332139
chr3133541035133541081E07332571
chr3133541191133541245E07332727
chr3133461397133461916E074-46548
chr3133461945133462055E074-46409
chr3133464069133464119E074-44345
chr3133473014133473073E074-35391
chr3133473315133473659E074-34805
chr3133476260133476458E074-32006
chr3133482562133482616E074-25848
chr3133482923133483028E074-25436
chr3133483054133483594E074-24870
chr3133483998133484070E074-24394
chr3133484337133484387E074-24077
chr3133540006133540074E07431542
chr3133540337133540417E07431873
chr3133540603133541021E07432139
chr3133541035133541081E07432571
chr3133541191133541245E07432727
chr3133541431133541497E07432967
chr3133541623133541762E07433159
chr3133541910133541964E07433446
chr3133526132133526214E08117668
chr3133464448133464526E082-43938
chr3133547516133547745E08239052
chr3133547924133548172E08239460
chr3133548284133548391E08239820










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-43312
chr3133465195133465439E067-43025
chr3133465691133465761E067-42703
chr3133468272133468322E067-40142
chr3133524082133525550E06715618
chr3133525588133525634E06717124
chr3133464975133465152E068-43312
chr3133465195133465439E068-43025
chr3133465691133465761E068-42703
chr3133468272133468322E068-40142
chr3133524082133525550E06815618
chr3133525588133525634E06817124
chr3133464975133465152E069-43312
chr3133465195133465439E069-43025
chr3133465691133465761E069-42703
chr3133468272133468322E069-40142
chr3133524082133525550E06915618
chr3133465195133465439E070-43025
chr3133524082133525550E07015618
chr3133525588133525634E07017124
chr3133464975133465152E071-43312
chr3133465195133465439E071-43025
chr3133465691133465761E071-42703
chr3133468272133468322E071-40142
chr3133524082133525550E07115618
chr3133525588133525634E07117124
chr3133464975133465152E072-43312
chr3133465195133465439E072-43025
chr3133465691133465761E072-42703
chr3133468272133468322E072-40142
chr3133524082133525550E07215618
chr3133525588133525634E07217124
chr3133464975133465152E073-43312
chr3133465195133465439E073-43025
chr3133465691133465761E073-42703
chr3133468272133468322E073-40142
chr3133524082133525550E07315618
chr3133525588133525634E07317124
chr3133464975133465152E074-43312
chr3133465195133465439E074-43025
chr3133465691133465761E074-42703
chr3133468272133468322E074-40142
chr3133524082133525550E07415618
chr3133525588133525634E07417124
chr3133464975133465152E081-43312
chr3133524082133525550E08115618
chr3133525588133525634E08117124
chr3133464975133465152E082-43312
chr3133465195133465439E082-43025
chr3133524082133525550E08215618
chr3133525588133525634E08217124