rs929412

Homo sapiens
C>T
RBM48 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0039 (1173/29976,GnomAD)
T=0042 (1233/29118,TOPMED)
T=0085 (426/5008,1000G)
T=0017 (64/3854,ALSPAC)
T=0019 (71/3708,TWINSUK)
chr7:92536548 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
56 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92536548C>T
GRCh37.p13 chr 7NC_000007.13:g.92165862C>T

Gene: RBM48, RNA binding motif protein 48(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBM48 transcript variant 1NM_032120.3:c.N/AIntron Variant
RBM48 transcript variant X2XM_006716150.3:c.N/AIntron Variant
RBM48 transcript variant X4XM_017012709.1:c.N/AIntron Variant
RBM48 transcript variant X1XM_006716149.3:c.N/A3 Prime UTR Variant
RBM48 transcript variant X3XM_005250636.4:c.N/A3 Prime UTR Variant
RBM48 transcript variant X5XR_001744884.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.958T=0.042
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.748T=0.252
1000GenomesEuropeSub1006C=0.981T=0.019
1000GenomesGlobalStudy-wide5008C=0.915T=0.085
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.983T=0.017
The Genome Aggregation DatabaseAfricanSub8726C=0.963T=0.037
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1616C=0.717T=0.283
The Genome Aggregation DatabaseEuropeSub18494C=0.985T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.960T=0.039
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.957T=0.042
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.981T=0.019
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
rs9294120.00069alcohol dependence20201924

eQTL of rs929412 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:92165862RBM48ENSG00000127993.10C>T2.2782e-47775Hypothalamus

meQTL of rs929412 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 )
chr79216383492163874E067-1988
chr79216392392164003E067-1859
chr79216404892164147E067-1715
chr79216480392164887E067-975
chr79219272992193157E06726867
chr79219327492193339E06727412
chr79219339692193436E06727534
chr79221422092214288E06748358
chr79221431292214375E06748450
chr79221437892214565E06748516
chr79215522792155275E068-10587
chr79215528792155347E068-10515
chr79219647792196827E06830615
chr79219684192197097E06830979
chr79221422092214288E06848358
chr79221431292214375E06848450
chr79221437892214565E06848516
chr79216383492163874E069-1988
chr79216392392164003E069-1859
chr79216404892164147E069-1715
chr79216480392164887E069-975
chr79216553392165573E069-289
chr79221422092214288E06948358
chr79221431292214375E06948450
chr79221437892214565E06948516
chr79215484092154904E070-10958
chr79215522792155275E070-10587
chr79215528792155347E070-10515
chr79215542692155482E070-10380
chr79215522792155275E071-10587
chr79215528792155347E071-10515
chr79215542692155482E071-10380
chr79221379692214126E07147934
chr79215522792155275E072-10587
chr79215528792155347E072-10515
chr79215542692155482E072-10380
chr79216392392164003E072-1859
chr79216404892164147E072-1715
chr79219647792196827E07230615
chr79221422092214288E07248358
chr79221431292214375E07248450
chr79221437892214565E07248516
chr79215522792155275E073-10587
chr79215528792155347E073-10515
chr79215542692155482E073-10380
chr79218984692189963E07323984
chr79221379692214126E07347934
chr79221422092214288E07348358
chr79221431292214375E07348450
chr79221437892214565E07348516
chr79216383492163874E074-1988
chr79216392392164003E074-1859
chr79216404892164147E074-1715
chr79221422092214288E07448358
chr79221431292214375E07448450
chr79221437892214565E07448516








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79215674592158674E067-7188
chr79215872192158793E067-7069
chr79215674592158674E068-7188
chr79215872192158793E068-7069
chr79215674592158674E069-7188
chr79215872192158793E069-7069
chr79215674592158674E070-7188
chr79215872192158793E070-7069
chr79215674592158674E071-7188
chr79215872192158793E071-7069
chr79215674592158674E072-7188
chr79215872192158793E072-7069
chr79215674592158674E073-7188
chr79215872192158793E073-7069
chr79215674592158674E074-7188
chr79215872192158793E074-7069
chr79215674592158674E081-7188
chr79215872192158793E081-7069
chr79215674592158674E082-7188
chr79215872192158793E082-7069