rs2681779

Homo sapiens
T>C
RBM6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0149 (3778/25226,GnomAD)
chr3:49973588 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.49973588T>C
GRCh37.p13 chr 3NC_000003.11:g.50011021T>C

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
The Genome Aggregation DatabaseAfricanSub7842T=0.959C=0.041
The Genome Aggregation DatabaseAmericanSub694T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1572T=0.898C=0.102
The Genome Aggregation DatabaseEuropeSub14838T=0.785C=0.214
The Genome Aggregation DatabaseGlobalStudy-wide25226T=0.850C=0.149
The Genome Aggregation DatabaseOtherSub280T=0.890C=0.110
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
rs26817790.0000615alcoholismpha002891
rs26817790.0000615alcohol dependence20201924

eQTL of rs2681779 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 rs2681779 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 )
chr34996545449965639E067-45382
chr34996569249966351E067-44670
chr34996809649968233E067-42788
chr34997997049980022E067-30999
chr34998018249980319E067-30702
chr35000380250003904E067-7117
chr35000409850004232E067-6789
chr35000428650004388E067-6633
chr35000457750005041E067-5980
chr34996569249966351E068-44670
chr34998760849987693E068-23328
chr34998773649987989E068-23032
chr34998834849988416E068-22605
chr35000409850004232E068-6789
chr35000428650004388E068-6633
chr35000457750005041E068-5980
chr35004079050040861E06829769
chr35004142450041606E06830403
chr34996545449965639E069-45382
chr34996569249966351E069-44670
chr34998760849987693E069-23328
chr34998773649987989E069-23032
chr34998834849988416E069-22605
chr35000409850004232E069-6789
chr35000428650004388E069-6633
chr35000457750005041E069-5980
chr34996545449965639E071-45382
chr34996569249966351E071-44670
chr34998760849987693E071-23328
chr34998773649987989E071-23032
chr34998834849988416E071-22605
chr34999761649997927E071-13094
chr34999800749998286E071-12735
chr35000380250003904E071-7117
chr35000409850004232E071-6789
chr35000428650004388E071-6633
chr35000457750005041E071-5980
chr35004079050040861E07129769
chr35005160850051741E07140587
chr34996545449965639E072-45382
chr34996809649968233E072-42788
chr34998018249980319E072-30702
chr35000380250003904E072-7117
chr35000409850004232E072-6789
chr35000428650004388E072-6633
chr35000457750005041E072-5980
chr34996545449965639E073-45382
chr34996809649968233E073-42788
chr34998760849987693E073-23328
chr34998773649987989E073-23032
chr34998834849988416E073-22605
chr35000380250003904E073-7117
chr35000409850004232E073-6789
chr35000428650004388E073-6633
chr35000457750005041E073-5980
chr34996569249966351E074-44670
chr34996793949968093E074-42928
chr34996809649968233E074-42788
chr34998760849987693E074-23328
chr34999761649997927E074-13094
chr35000380250003904E074-7117
chr35000409850004232E074-6789
chr35000428650004388E074-6633
chr35000457750005041E074-5980
chr34996793949968093E081-42928
chr34998467049984842E081-26179
chr34999486249995092E081-15929
chr34999521649995419E081-15602
chr35003309550033874E08122074
chr35003902450039646E08128003
chr35004142450041606E08130403
chr34996545449965639E082-45382
chr34998760849987693E082-23328
chr35003902450039646E08228003









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr34996669349967859E067-43162
chr34997706449978317E067-32704
chr34996669349967859E068-43162
chr34997706449978317E068-32704
chr34996669349967859E069-43162
chr34997706449978317E069-32704
chr34996669349967859E070-43162
chr34997706449978317E070-32704
chr34996669349967859E071-43162
chr34997706449978317E071-32704
chr34996669349967859E072-43162
chr34997706449978317E072-32704
chr34996669349967859E073-43162
chr34997706449978317E073-32704
chr34996669349967859E074-43162
chr34997706449978317E074-32704
chr34996669349967859E081-43162
chr34997706449978317E081-32704
chr34996669349967859E082-43162
chr34997706449978317E082-32704