rs2624821

Homo sapiens
G>A
RBM6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0149 (4475/29954,GnomAD)
A=0123 (3584/29118,TOPMED)
A=0103 (518/5008,1000G)
A=0187 (721/3854,ALSPAC)
A=0196 (725/3708,TWINSUK)
chr3:49976681 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.49976681G>A
GRCh37.p13 chr 3NC_000003.11:g.50014114G>A

Gene: RBM6, RNA binding motif protein 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBM6 transcript variant 2NM_001167582.1:c.N/AIntron Variant
RBM6 transcript variant 1NM_005777.2:c.N/AIntron Variant
RBM6 transcript variant X3XM_005264784.1:c.N/AIntron Variant
RBM6 transcript variant X5XM_005264785.1:c.N/AIntron Variant
RBM6 transcript variant X12XM_005264786.1:c.N/AIntron Variant
RBM6 transcript variant X11XM_005264787.2:c.N/AIntron Variant
RBM6 transcript variant X2XM_006712916.1:c.N/AIntron Variant
RBM6 transcript variant X4XM_017005496.1:c.N/AIntron Variant
RBM6 transcript variant X7XM_017005498.1:c.N/AIntron Variant
RBM6 transcript variant X8XM_017005499.1:c.N/AIntron Variant
RBM6 transcript variant X9XM_017005500.1:c.N/AIntron Variant
RBM6 transcript variant X10XM_017005501.1:c.N/AIntron Variant
RBM6 transcript variant X10XM_017005502.1:c.N/AIntron Variant
RBM6 transcript variant X6XM_017005497.1:c.N/AGenic Upstream Transcript Variant
RBM6 transcript variant X1XR_001739975.1:n.N/AIntron Variant
RBM6 transcript variant X14XR_001739976.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.983A=0.017
1000GenomesAmericanSub694G=0.890A=0.110
1000GenomesEast AsianSub1008G=0.894A=0.106
1000GenomesEuropeSub1006G=0.804A=0.196
1000GenomesGlobalStudy-wide5008G=0.897A=0.103
1000GenomesSouth AsianSub978G=0.880A=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.813A=0.187
The Genome Aggregation DatabaseAfricanSub8722G=0.961A=0.039
The Genome Aggregation DatabaseAmericanSub838G=0.890A=0.110
The Genome Aggregation DatabaseEast AsianSub1618G=0.893A=0.107
The Genome Aggregation DatabaseEuropeSub18474G=0.792A=0.207
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.850A=0.149
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.876A=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.804A=0.196
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
rs26248210.0000607alcoholismpha002891
rs26248210.0000607alcohol dependence20201924

eQTL of rs2624821 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:50014114RBM6ENSG00000004534.10G>A0.0000e+036674Cerebellum
Chr3:50014114RBM6ENSG00000004534.10G>A2.9918e-1236674Cerebellar_Hemisphere

meQTL of rs2624821 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 )
chr34996545449965639E067-48475
chr34996569249966351E067-47763
chr34996809649968233E067-45881
chr34997997049980022E067-34092
chr34998018249980319E067-33795
chr35000380250003904E067-10210
chr35000409850004232E067-9882
chr35000428650004388E067-9726
chr35000457750005041E067-9073
chr34996569249966351E068-47763
chr34998760849987693E068-26421
chr34998773649987989E068-26125
chr34998834849988416E068-25698
chr35000409850004232E068-9882
chr35000428650004388E068-9726
chr35000457750005041E068-9073
chr35004079050040861E06826676
chr35004142450041606E06827310
chr34996545449965639E069-48475
chr34996569249966351E069-47763
chr34998760849987693E069-26421
chr34998773649987989E069-26125
chr34998834849988416E069-25698
chr35000409850004232E069-9882
chr35000428650004388E069-9726
chr35000457750005041E069-9073
chr34996545449965639E071-48475
chr34996569249966351E071-47763
chr34998760849987693E071-26421
chr34998773649987989E071-26125
chr34998834849988416E071-25698
chr34999761649997927E071-16187
chr34999800749998286E071-15828
chr35000380250003904E071-10210
chr35000409850004232E071-9882
chr35000428650004388E071-9726
chr35000457750005041E071-9073
chr35004079050040861E07126676
chr35005160850051741E07137494
chr34996545449965639E072-48475
chr34996809649968233E072-45881
chr34998018249980319E072-33795
chr35000380250003904E072-10210
chr35000409850004232E072-9882
chr35000428650004388E072-9726
chr35000457750005041E072-9073
chr34996545449965639E073-48475
chr34996809649968233E073-45881
chr34998760849987693E073-26421
chr34998773649987989E073-26125
chr34998834849988416E073-25698
chr35000380250003904E073-10210
chr35000409850004232E073-9882
chr35000428650004388E073-9726
chr35000457750005041E073-9073
chr34996569249966351E074-47763
chr34996793949968093E074-46021
chr34996809649968233E074-45881
chr34998760849987693E074-26421
chr34999761649997927E074-16187
chr35000380250003904E074-10210
chr35000409850004232E074-9882
chr35000428650004388E074-9726
chr35000457750005041E074-9073
chr34996793949968093E081-46021
chr34998467049984842E081-29272
chr34999486249995092E081-19022
chr34999521649995419E081-18695
chr35003309550033874E08118981
chr35003902450039646E08124910
chr35004142450041606E08127310
chr34996545449965639E082-48475
chr34998760849987693E082-26421
chr35003902450039646E08224910









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr34996669349967859E067-46255
chr34997706449978317E067-35797
chr34996669349967859E068-46255
chr34997706449978317E068-35797
chr34996669349967859E069-46255
chr34997706449978317E069-35797
chr34996669349967859E070-46255
chr34997706449978317E070-35797
chr34996669349967859E071-46255
chr34997706449978317E071-35797
chr34996669349967859E072-46255
chr34997706449978317E072-35797
chr34996669349967859E073-46255
chr34997706449978317E073-35797
chr34996669349967859E074-46255
chr34997706449978317E074-35797
chr34996669349967859E081-46255
chr34997706449978317E081-35797
chr34996669349967859E082-46255
chr34997706449978317E082-35797