rs2624834

Homo sapiens
G>T
RBM5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0141 (4230/29958,GnomAD)
G==0117 (3423/29118,TOPMED)
G==0100 (502/5008,1000G)
G==0181 (697/3854,ALSPAC)
G==0188 (698/3708,TWINSUK)
chr3:50094698 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50094698G>T
GRCh37.p13 chr 3NC_000003.11:g.50132131G>T
RBM5 RefSeqGeneNG_030403.1:g.10791G>T

Gene: RBM5, RNA binding motif protein 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBM5 transcript variant 1NM_005778.3:c.N/AIntron Variant
RBM5 transcript variant 2NR_036627.2:n.N/AIntron Variant
RBM5 transcript variant X2XM_006712917.1:c.N/AIntron Variant
RBM5 transcript variant X4XM_011533261.1:c.N/AIntron Variant
RBM5 transcript variant X3XM_011533262.1:c.N/AIntron Variant
RBM5 transcript variant X1XM_017005503.1:c.N/AIntron Variant
RBM5 transcript variant X5XM_017005504.1:c.N/AIntron Variant
RBM5 transcript variant X6XM_017005505.1:c.N/AIntron Variant
RBM5 transcript variant X7XM_017005506.1:c.N/AIntron Variant
RBM5 transcript variant X8XM_017005507.1:c.N/AIntron Variant
RBM5 transcript variant X9XR_427245.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.016T=0.984
1000GenomesAmericanSub694G=0.110T=0.890
1000GenomesEast AsianSub1008G=0.106T=0.894
1000GenomesEuropeSub1006G=0.182T=0.818
1000GenomesGlobalStudy-wide5008G=0.100T=0.900
1000GenomesSouth AsianSub978G=0.120T=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.181T=0.819
The Genome Aggregation DatabaseAfricanSub8728G=0.038T=0.962
The Genome Aggregation DatabaseAmericanSub838G=0.110T=0.890
The Genome Aggregation DatabaseEast AsianSub1612G=0.106T=0.894
The Genome Aggregation DatabaseEuropeSub18478G=0.195T=0.804
The Genome Aggregation DatabaseGlobalStudy-wide29958G=0.141T=0.858
The Genome Aggregation DatabaseOtherSub302G=0.080T=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.117T=0.882
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.188T=0.812
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs26248340.0000444alcoholismpha002891
rs26248340.0000444alcohol dependence20201924

eQTL of rs2624834 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:50132131RBM6ENSG00000004534.10G>T0.0000e+0154691Cerebellum
Chr3:50132131RBM6ENSG00000004534.10G>T2.9918e-12154691Cerebellar_Hemisphere

meQTL of rs2624834 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 )
chr35016200750162173E06729876
chr35016219750162236E06730066
chr35016231250162667E06730181
chr35016341450163569E06731283
chr35016362150164254E06731490
chr35012851350128553E068-3578
chr35012858950128643E068-3488
chr35015952150159787E06827390
chr35016060950160974E06828478
chr35016112550161647E06828994
chr35016183150161947E06829700
chr35016200750162173E06829876
chr35016303250163295E06830901
chr35016341450163569E06831283
chr35016362150164254E06831490
chr35016989950170134E06837768
chr35017101350171068E06838882
chr35017428050174459E06842149
chr35017574250176656E06843611
chr35008747650087537E069-44594
chr35008779950088129E069-44002
chr35012884150128905E069-3226
chr35016231250162667E06930181
chr35016303250163295E06930901
chr35016341450163569E06931283
chr35016183150161947E07029700
chr35016200750162173E07029876
chr35016219750162236E07030066
chr35016231250162667E07030181
chr35016303250163295E07030901
chr35016341450163569E07031283
chr35016362150164254E07031490
chr35016426250164533E07032131
chr35016480350164863E07032672
chr35016488750165098E07032756
chr35016557650165669E07033445
chr35017553050175605E07043399
chr35017574250176656E07043611
chr35017674050176966E07044609
chr35017725850177386E07045127
chr35017749050177540E07045359
chr35008747650087537E071-44594
chr35008779950088129E071-44002
chr35012851350128553E071-3578
chr35012858950128643E071-3488
chr35012884150128905E071-3226
chr35015952150159787E07127390
chr35016183150161947E07129700
chr35016200750162173E07129876
chr35016219750162236E07130066
chr35016231250162667E07130181
chr35016303250163295E07130901
chr35016341450163569E07131283
chr35016362150164254E07131490
chr35016426250164533E07132131
chr35012884150128905E072-3226
chr35016341450163569E07231283
chr35016362150164254E07231490
chr35016426250164533E07232131
chr35008747650087537E073-44594
chr35008779950088129E073-44002
chr35015952150159787E07327390
chr35015995950160029E07327828
chr35016060950160974E07328478
chr35016231250162667E07330181
chr35016303250163295E07330901
chr35016341450163569E07331283
chr35016362150164254E07331490
chr35012820650128356E074-3775
chr35012851350128553E074-3578
chr35012858950128643E074-3488
chr35016303250163295E07430901
chr35016341450163569E07431283
chr35012884150128905E081-3226
chr35016303250163295E08130901
chr35016341450163569E08131283
chr35016362150164254E08131490
chr35016426250164533E08132131
chr35016480350164863E08132672
chr35016488750165098E08132756
chr35016989950170134E08137768
chr35017553050175605E08143399
chr35017574250176656E08143611
chr35017674050176966E08144609
chr35017706550177119E08144934
chr35017725850177386E08145127
chr35017749050177540E08145359
chr35016303250163295E08230901
chr35016341450163569E08231283
chr35016362150164254E08231490
chr35016426250164533E08232131
chr35016480350164863E08232672
chr35016488750165098E08232756
chr35016989950170134E08237768
chr35017553050175605E08243399
chr35017706550177119E08244934
chr35017725850177386E08245127
chr35017749050177540E08245359










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35012599050127491E067-4640
chr35012599050127491E068-4640
chr35012599050127491E069-4640
chr35012599050127491E070-4640
chr35012599050127491E071-4640
chr35012599050127491E072-4640
chr35012599050127491E073-4640
chr35012599050127491E074-4640
chr35012599050127491E081-4640
chr35012599050127491E082-4640