rs13269383

Homo sapiens
T>C
MYOM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0153 (4595/29954,GnomAD)
T=0153 (4457/29118,TOPMED)
T=0142 (710/5008,1000G)
T=0125 (480/3854,ALSPAC)
T=0128 (476/3708,TWINSUK)
chr8:2088699 (GRCh38.p7) (8p23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.2088699T>C
GRCh37.p13 chr 8 fix patch HG19_PATCHNW_003571042.1:g.71087C>T
GRCh38.p7 chr 8 alt locus HSCHR8_8_CTG1NT_187576.1:g.271686C>T
GRCh37.p13 chr 8NC_000008.10:g.2036476C>T

Gene: MYOM2, myomesin 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYOM2 transcriptNM_003970.3:c.N/AIntron Variant
MYOM2 transcript variant X1XM_006716237.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.762T==0.238
1000GenomesAmericanSub694C=0.900T==0.100
1000GenomesEast AsianSub1008C=0.859T==0.141
1000GenomesEuropeSub1006C=0.883T==0.117
1000GenomesGlobalStudy-wide5008C=0.858T==0.142
1000GenomesSouth AsianSub978C=0.930T==0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.875T==0.125
The Genome Aggregation DatabaseAfricanSub8716C=0.785T==0.215
The Genome Aggregation DatabaseAmericanSub838C=0.920T==0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.861T==0.139
The Genome Aggregation DatabaseEuropeSub18478C=0.870T==0.129
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.846T==0.153
The Genome Aggregation DatabaseOtherSub302C=0.860T==0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.846T==0.153
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.872T==0.128
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs132693830.000567nicotine smoking19268276

eQTL of rs13269383 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 rs13269383 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.