rs1107413

Homo sapiens
G>C
SRPRB : Missense Variant
LOC105374116 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0218 (25896/118480,ExAC)
C=0196 (5892/29972,GnomAD)
C=0180 (5258/29118,TOPMED)
G==0204 (2660/13004,GO-ESP)
C=0173 (867/5008,1000G)
C=0267 (1029/3854,ALSPAC)
C=0263 (975/3708,TWINSUK)
chr3:133805873 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133805873G>C
GRCh37.p13 chr 3NC_000003.11:g.133524717G>C

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

Molecule type Change Amino acid[Codon] SO Term
SRPRB transcriptNM_021203.3:c.25G>CV [GTG]> L [CTG]Coding Sequence Variant
signal recognition particle receptor subunit betaNP_067026.3:p.Val...NP_067026.3:p.Val9LeuV [Val]> L [Leu]Missense Variant

Gene: LOC105374116, uncharacterized LOC105374116(minus strand): 2KB Upstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.918C=0.082
1000GenomesAmericanSub694G=0.760C=0.240
1000GenomesEast AsianSub1008G=0.774C=0.226
1000GenomesEuropeSub1006G=0.796C=0.204
1000GenomesGlobalStudy-wide5008G=0.827C=0.173
1000GenomesSouth AsianSub978G=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.733C=0.267
The Exome Aggregation ConsortiumAmericanSub21698G=0.843C=0.156
The Exome Aggregation ConsortiumAsianSub23620G=0.810C=0.189
The Exome Aggregation ConsortiumEuropeSub72274G=0.753C=0.246
The Exome Aggregation ConsortiumGlobalStudy-wide118480G=0.781C=0.218
The Exome Aggregation ConsortiumOtherSub888G=0.770C=0.230
The Genome Aggregation DatabaseAfricanSub8722G=0.885C=0.115
The Genome Aggregation DatabaseAmericanSub838G=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1622G=0.776C=0.224
The Genome Aggregation DatabaseEuropeSub18488G=0.769C=0.230
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.803C=0.196
The Genome Aggregation DatabaseOtherSub302G=0.670C=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.819C=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.737C=0.263
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs11074131.13E-12alcohol consumption21665994

eQTL of rs1107413 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 rs1107413 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 )
chr3133482923133483028E067-41689
chr3133483054133483594E067-41123
chr3133483998133484070E067-40647
chr3133562885133562960E06738168
chr3133573215133573347E06748498
chr3133573885133574171E06749168
chr3133482562133482616E068-42101
chr3133482923133483028E068-41689
chr3133483054133483594E068-41123
chr3133572273133572376E06847556
chr3133572430133572579E06847713
chr3133572588133572638E06847871
chr3133573215133573347E06848498
chr3133573885133574171E06849168
chr3133476260133476458E069-48259
chr3133482562133482616E069-42101
chr3133482923133483028E069-41689
chr3133483054133483594E069-41123
chr3133483998133484070E069-40647
chr3133484337133484387E069-40330
chr3133540603133541021E06915886
chr3133541191133541245E06916474
chr3133572273133572376E06947556
chr3133572430133572579E06947713
chr3133572588133572638E06947871
chr3133573215133573347E06948498
chr3133573885133574171E06949168
chr3133482923133483028E070-41689
chr3133483054133483594E070-41123
chr3133547093133547193E07022376
chr3133547516133547745E07022799
chr3133547924133548172E07023207
chr3133572273133572376E07047556
chr3133572430133572579E07047713
chr3133572588133572638E07047871
chr3133573215133573347E07048498
chr3133573885133574171E07049168
chr3133482562133482616E071-42101
chr3133482923133483028E071-41689
chr3133483054133483594E071-41123
chr3133483998133484070E071-40647
chr3133484337133484387E071-40330
chr3133540337133540417E07115620
chr3133572273133572376E07147556
chr3133572430133572579E07147713
chr3133572588133572638E07147871
chr3133573215133573347E07148498
chr3133573885133574171E07149168
chr3133482923133483028E072-41689
chr3133483054133483594E072-41123
chr3133483998133484070E072-40647
chr3133484337133484387E072-40330
chr3133573215133573347E07248498
chr3133573885133574171E07249168
chr3133482923133483028E073-41689
chr3133483054133483594E073-41123
chr3133540006133540074E07315289
chr3133540337133540417E07315620
chr3133540603133541021E07315886
chr3133541035133541081E07316318
chr3133541191133541245E07316474
chr3133572273133572376E07347556
chr3133573215133573347E07348498
chr3133573885133574171E07349168
chr3133476260133476458E074-48259
chr3133482562133482616E074-42101
chr3133482923133483028E074-41689
chr3133483054133483594E074-41123
chr3133483998133484070E074-40647
chr3133484337133484387E074-40330
chr3133540006133540074E07415289
chr3133540337133540417E07415620
chr3133540603133541021E07415886
chr3133541035133541081E07416318
chr3133541191133541245E07416474
chr3133541431133541497E07416714
chr3133541623133541762E07416906
chr3133541910133541964E07417193
chr3133572430133572579E07447713
chr3133572588133572638E07447871
chr3133573215133573347E07448498
chr3133573885133574171E07449168
chr3133526132133526214E0811415
chr3133572273133572376E08147556
chr3133573215133573347E08148498
chr3133573885133574171E08149168
chr3133547516133547745E08222799
chr3133547924133548172E08223207
chr3133548284133548391E08223567
chr3133572273133572376E08247556
chr3133572430133572579E08247713
chr3133572588133572638E08247871
chr3133573215133573347E08248498
chr3133573885133574171E08249168










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E0670
chr3133525588133525634E067871
chr3133524082133525550E0680
chr3133525588133525634E068871
chr3133524082133525550E0690
chr3133524082133525550E0700
chr3133525588133525634E070871
chr3133524082133525550E0710
chr3133525588133525634E071871
chr3133524082133525550E0720
chr3133525588133525634E072871
chr3133524082133525550E0730
chr3133525588133525634E073871
chr3133524082133525550E0740
chr3133525588133525634E074871
chr3133524082133525550E0810
chr3133525588133525634E081871
chr3133524082133525550E0820
chr3133525588133525634E082871