rs3852465

Homo sapiens
T>C
MALRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0209 (6262/29928,GnomAD)
C=0285 (8312/29118,TOPMED)
C=0235 (1176/5008,1000G)
C=0109 (420/3854,ALSPAC)
C=0112 (414/3708,TWINSUK)
chr10:19507501 (GRCh38.p7) (10p12.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.19507501T>C
GRCh37.p13 chr 10NC_000010.10:g.19796430T>C

Gene: MALRD1, MAM and LDL receptor class A domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MALRD1 transcriptNM_001142308.2:c.N/AIntron Variant
MALRD1 transcript variant X1XM_011519453.2:c.N/AIntron Variant
MALRD1 transcript variant X2XM_011519454.1:c.N/AIntron Variant
MALRD1 transcript variant X3XM_011519455.2:c.N/AIntron Variant
MALRD1 transcript variant X4XM_017016182.1:c.N/AIntron Variant
MALRD1 transcript variant X5XM_017016183.1:c.N/AIntron Variant
MALRD1 transcript variant X7XM_017016184.1:c.N/AIntron Variant
MALRD1 transcript variant X8XM_017016185.1:c.N/AIntron Variant
MALRD1 transcript variant X9XM_017016186.1:c.N/AIntron Variant
MALRD1 transcript variant X6XR_001747102.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.489C=0.511
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.865C=0.135
1000GenomesEuropeSub1006T=0.904C=0.096
1000GenomesGlobalStudy-wide5008T=0.765C=0.235
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.891C=0.109
The Genome Aggregation DatabaseAfricanSub8696T=0.546C=0.454
The Genome Aggregation DatabaseAmericanSub834T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1618T=0.857C=0.143
The Genome Aggregation DatabaseEuropeSub18480T=0.896C=0.103
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.790C=0.209
The Genome Aggregation DatabaseOtherSub300T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.714C=0.285
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.888C=0.112
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
rs38524650.00069alcohol dependence20201924

eQTL of rs3852465 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 rs3852465 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr101977760319777755E068-18675
chr101977777419778305E068-18125
chr101977760319777755E071-18675
chr101977777419778305E071-18125
chr101977830919778435E071-17995
chr101977777419778305E072-18125
chr101977830919778435E072-17995
chr101977777419778305E073-18125
chr101977830919778435E073-17995
chr101977777419778305E074-18125
chr101977830919778435E074-17995
chr101977777419778305E081-18125
chr101977830919778435E081-17995
chr101977760319777755E082-18675
chr101977777419778305E082-18125