rs6465353

Homo sapiens
T>G
LRRD1 : Missense Variant
CYP51A1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0443 (13245/29878,GnomAD)
G=0490 (14279/29118,TOPMED)
G=0422 (9471/22416,ExAC)
G=0417 (2086/5008,1000G)
G=0397 (1530/3854,ALSPAC)
G=0383 (1420/3708,TWINSUK)
chr7:92150657 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92150657T>G
GRCh37.p13 chr 7NC_000007.13:g.91779971T>G

Gene: LRRD1, leucine-rich repeats and death domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LRRD1 transcriptNM_001161528.1:c....NM_001161528.1:c.2155A>CI [ATT]> L [CTT]Coding Sequence Variant
leucine-rich repeat and death domain-containing protein 1NP_001155000.1:p....NP_001155000.1:p.Ile719LeuI [Ile]> L [Leu]Missense Variant

Gene: CYP51A1-AS1, CYP51A1 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CYP51A1-AS1 transcript variant 1NR_122109.1:n.N/AIntron Variant
CYP51A1-AS1 transcript variant 2NR_122110.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.328G=0.672
1000GenomesAmericanSub694T=0.630G=0.370
1000GenomesEast AsianSub1008T=0.812G=0.188
1000GenomesEuropeSub1006T=0.607G=0.393
1000GenomesGlobalStudy-wide5008T=0.583G=0.417
1000GenomesSouth AsianSub978T=0.640G=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.603G=0.397
The Exome Aggregation ConsortiumAmericanSub2708T=0.401G=0.599
The Exome Aggregation ConsortiumAsianSub8518T=0.642G=0.358
The Exome Aggregation ConsortiumEuropeSub10940T=0.570G=0.429
The Exome Aggregation ConsortiumGlobalStudy-wide22416T=0.577G=0.422
The Exome Aggregation ConsortiumOtherSub250T=0.630G=0.370
The Genome Aggregation DatabaseAfricanSub8704T=0.365G=0.635
The Genome Aggregation DatabaseAmericanSub838T=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1608T=0.794G=0.206
The Genome Aggregation DatabaseEuropeSub18430T=0.622G=0.377
The Genome Aggregation DatabaseGlobalStudy-wide29878T=0.556G=0.443
The Genome Aggregation DatabaseOtherSub298T=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.509G=0.490
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.617G=0.383
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs64653530.00017alcohol dependence21314694

eQTL of rs6465353 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:91779971AKAP9ENSG00000127914.12T>G4.3498e-3209790Cerebellum

meQTL of rs6465353 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 )
chr79174951291749625E067-30346
chr79174978391749859E067-30112
chr79176026191760331E067-19640
chr79176039991760443E067-19528
chr79176044791760501E067-19470
chr79176112891761168E067-18803
chr79176122491761308E067-18663
chr79176144091761490E067-18481
chr79176151591761601E067-18370
chr79176026191760331E069-19640
chr79176039991760443E069-19528
chr79176044791760501E069-19470
chr79176112891761168E069-18803
chr79176122491761308E069-18663
chr79176144091761490E069-18481
chr79176151591761601E069-18370
chr79180943991809493E06929468
chr79180960691809761E06929635
chr79176122491761308E070-18663
chr79176144091761490E070-18481
chr79176151591761601E070-18370
chr79174866291748762E071-31209
chr79174879791748859E071-31112
chr79175586191755941E071-24030
chr79176026191760331E071-19640
chr79176039991760443E071-19528
chr79176044791760501E071-19470
chr79176112891761168E071-18803
chr79176122491761308E071-18663
chr79176144091761490E071-18481
chr79176151591761601E071-18370
chr79176112891761168E072-18803
chr79175586191755941E073-24030
chr79176026191760331E073-19640
chr79176039991760443E073-19528
chr79176044791760501E073-19470
chr79180943991809493E07329468
chr79180960691809761E07329635
chr79174866291748762E074-31209
chr79174879791748859E074-31112
chr79175027791750331E074-29640
chr79176026191760331E074-19640
chr79176039991760443E074-19528
chr79176044791760501E074-19470
chr79176112891761168E074-18803
chr79176122491761308E074-18663
chr79176144091761490E074-18481
chr79176151591761601E074-18370
chr79176112891761168E081-18803
chr79176122491761308E081-18663
chr79176144091761490E081-18481
chr79176151591761601E081-18370








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79176255591762780E067-17191
chr79176284091765464E067-14507
chr79180804791809323E06728076
chr79176284091765464E068-14507
chr79180804791809323E06828076
chr79176200391762552E069-17419
chr79176255591762780E069-17191
chr79176284091765464E069-14507
chr79180804791809323E06928076
chr79176200391762552E070-17419
chr79176255591762780E070-17191
chr79176284091765464E070-14507
chr79180804791809323E07028076
chr79176255591762780E071-17191
chr79176284091765464E071-14507
chr79180804791809323E07128076
chr79176200391762552E072-17419
chr79176255591762780E072-17191
chr79176284091765464E072-14507
chr79180804791809323E07228076
chr79176255591762780E073-17191
chr79176284091765464E073-14507
chr79180804791809323E07328076
chr79176255591762780E074-17191
chr79176284091765464E074-14507
chr79180804791809323E07428076
chr79176200391762552E081-17419
chr79176255591762780E081-17191
chr79176284091765464E081-14507
chr79180804791809323E08128076
chr79176200391762552E082-17419
chr79176255591762780E082-17191
chr79176284091765464E082-14507
chr79180804791809323E08228076