rs6794945

Homo sapiens
C>T
SRPRB : Intron Variant
LOC105374116 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0264 (7901/29886,GnomAD)
T=0240 (7013/29118,TOPMED)
T=0311 (1557/5008,1000G)
T=0316 (1218/3854,ALSPAC)
T=0317 (1175/3708,TWINSUK)
chr3:133799619 (GRCh38.p7) (3q22.1)
AD
GWASdb2
4   publication(s)
See rs on genome
62 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133799619C>T
GRCh37.p13 chr 3NC_000003.11:g.133518463C>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
1000GenomesAfricanSub1322C=0.931T=0.069
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.537T=0.463
1000GenomesEuropeSub1006C=0.666T=0.334
1000GenomesGlobalStudy-wide5008C=0.689T=0.311
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.684T=0.316
The Genome Aggregation DatabaseAfricanSub8706C=0.883T=0.117
The Genome Aggregation DatabaseAmericanSub838C=0.540T=0.460
The Genome Aggregation DatabaseEast AsianSub1610C=0.558T=0.442
The Genome Aggregation DatabaseEuropeSub18430C=0.689T=0.310
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.735T=0.264
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.759T=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.683T=0.317
PMID Title Author Journal
19084217Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.Benyamin BAm J Hum Genet
19673882A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.Constantine CCBr J Haematol
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol 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
rs67949456.06E-13alcohol consumption21665994

eQTL of rs6794945 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 rs6794945 in Fetal Brain

Probe ID Position Gene beta p-value
cg16414030chr3:133502952-0.1269602174933555.1608e-48
cg08048268chr3:133502702-0.1818601776485477.3786e-44
cg01448562chr3:133502909-0.07993512682992122.3946e-43
cg16275903chr3:133524006SRPRB0.07507210791206341.6591e-32
cg11941060chr3:133502564-0.0907815210303584.5922e-32
cg08439880chr3:133502540-0.09672761046027382.3831e-30
cg20276088chr3:133502917-0.04781800827479382.4907e-29

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 )
chr3133482923133483028E067-35435
chr3133483054133483594E067-34869
chr3133483998133484070E067-34393
chr3133562885133562960E06744422
chr3133482562133482616E068-35847
chr3133482923133483028E068-35435
chr3133483054133483594E068-34869
chr3133473014133473073E069-45390
chr3133473315133473659E069-44804
chr3133476260133476458E069-42005
chr3133482562133482616E069-35847
chr3133482923133483028E069-35435
chr3133483054133483594E069-34869
chr3133483998133484070E069-34393
chr3133484337133484387E069-34076
chr3133540603133541021E06922140
chr3133541191133541245E06922728
chr3133482923133483028E070-35435
chr3133483054133483594E070-34869
chr3133547093133547193E07028630
chr3133547516133547745E07029053
chr3133547924133548172E07029461
chr3133473014133473073E071-45390
chr3133473315133473659E071-44804
chr3133482562133482616E071-35847
chr3133482923133483028E071-35435
chr3133483054133483594E071-34869
chr3133483998133484070E071-34393
chr3133484337133484387E071-34076
chr3133540337133540417E07121874
chr3133473014133473073E072-45390
chr3133482923133483028E072-35435
chr3133483054133483594E072-34869
chr3133483998133484070E072-34393
chr3133484337133484387E072-34076
chr3133482923133483028E073-35435
chr3133483054133483594E073-34869
chr3133540006133540074E07321543
chr3133540337133540417E07321874
chr3133540603133541021E07322140
chr3133541035133541081E07322572
chr3133541191133541245E07322728
chr3133473014133473073E074-45390
chr3133473315133473659E074-44804
chr3133476260133476458E074-42005
chr3133482562133482616E074-35847
chr3133482923133483028E074-35435
chr3133483054133483594E074-34869
chr3133483998133484070E074-34393
chr3133484337133484387E074-34076
chr3133540006133540074E07421543
chr3133540337133540417E07421874
chr3133540603133541021E07422140
chr3133541035133541081E07422572
chr3133541191133541245E07422728
chr3133541431133541497E07422968
chr3133541623133541762E07423160
chr3133541910133541964E07423447
chr3133526132133526214E0817669
chr3133547516133547745E08229053
chr3133547924133548172E08229461
chr3133548284133548391E08229821










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E0675619
chr3133525588133525634E0677125
chr3133524082133525550E0685619
chr3133525588133525634E0687125
chr3133524082133525550E0695619
chr3133524082133525550E0705619
chr3133525588133525634E0707125
chr3133524082133525550E0715619
chr3133525588133525634E0717125
chr3133524082133525550E0725619
chr3133525588133525634E0727125
chr3133524082133525550E0735619
chr3133525588133525634E0737125
chr3133524082133525550E0745619
chr3133525588133525634E0747125
chr3133524082133525550E0815619
chr3133525588133525634E0817125
chr3133524082133525550E0825619
chr3133525588133525634E0827125