rs29452

Homo sapiens
C>A
MYO10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0274 (8213/29924,GnomAD)
A=0258 (7516/29118,TOPMED)
A=0225 (1126/5008,1000G)
A=0283 (1089/3854,ALSPAC)
A=0290 (1075/3708,TWINSUK)
chr5:16910496 (GRCh38.p7) (5p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.16910496C>A
GRCh37.p13 chr 5NC_000005.9:g.16910605C>A

Gene: MYO10, myosin X(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MYO10 transcriptNM_012334.2:c.N/AIntron Variant
MYO10 transcript variant X1XM_006714475.2:c.N/AIntron Variant
MYO10 transcript variant X2XM_005248306.4:c.N/AGenic Upstream Transcript Variant
MYO10 transcript variant X4XM_005248307.2:c.N/AGenic Upstream Transcript Variant
MYO10 transcript variant X3XM_011514046.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.792A=0.208
1000GenomesAmericanSub694C=0.750A=0.250
1000GenomesEast AsianSub1008C=0.824A=0.176
1000GenomesEuropeSub1006C=0.693A=0.307
1000GenomesGlobalStudy-wide5008C=0.775A=0.225
1000GenomesSouth AsianSub978C=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.717A=0.283
The Genome Aggregation DatabaseAfricanSub8706C=0.767A=0.233
The Genome Aggregation DatabaseAmericanSub838C=0.720A=0.280
The Genome Aggregation DatabaseEast AsianSub1620C=0.849A=0.151
The Genome Aggregation DatabaseEuropeSub18458C=0.695A=0.304
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.725A=0.274
The Genome Aggregation DatabaseOtherSub302C=0.710A=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.741A=0.258
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.710A=0.290
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
rs294520.000692alcohol dependence20201924

eQTL of rs29452 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 rs29452 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 )
chr51686434716864441E081-46164
chr51686464716865280E081-45325
chr51686532016865535E081-45070
chr51689796116898191E081-12414
chr51690037016900504E081-10101
chr51690052816900844E081-9761
chr51690090116901011E081-9594
chr51690115716901971E081-8634
chr51691283716913191E0812232
chr51686464716865280E082-45325
chr51686532016865535E082-45070
chr51686654816866876E082-43729
chr51686694116867580E082-43025
chr51690037016900504E082-10101
chr51690052816900844E082-9761
chr51690090116901011E082-9594
chr51690115716901971E082-8634
chr51691283716913191E0822232
chr51693142416931821E08220819
chr51693182216931900E08221217
chr51693192216931985E08221317
chr51693204516932245E08221440
chr51693240316932573E08221798
chr51693263116932850E08222026
chr51693288916933058E08222284
chr51693775116937844E08227146
chr51693787116937921E08227266
chr51693799116938158E08227386


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51693476016937476E06724155
chr51693476016937476E06824155
chr51693476016937476E06924155
chr51693397616934754E07123371
chr51693476016937476E07224155
chr51693476016937476E07324155
chr51693476016937476E07424155
chr51693397616934754E08223371
chr51693476016937476E08224155