rs327127

Homo sapiens
C>G
MTUS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0144 (4314/29938,GnomAD)
C==0154 (4511/29116,TOPMED)
C==0192 (962/5008,1000G)
C==0043 (164/3854,ALSPAC)
C==0043 (160/3708,TWINSUK)
chr13:28944763 (GRCh38.p7) (13q12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.28944763C>G
GRCh37.p13 chr 13NC_000013.10:g.29518900C>G

Gene: MTUS2, microtubule associated tumor suppressor candidate 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MTUS2 transcript variant 1NM_001033602.2:c.N/AGenic Upstream Transcript Variant
MTUS2 transcript variant 2NM_015233.5:c.N/AGenic Upstream Transcript Variant
MTUS2 transcript variant X1XM_011535019.2:c.N/AIntron Variant
MTUS2 transcript variant X2XM_011535020.2:c.N/AIntron Variant
MTUS2 transcript variant X3XM_011535021.2:c.N/AIntron Variant
MTUS2 transcript variant X4XM_017020500.1:c.N/AIntron Variant
MTUS2 transcript variant X5XM_017020501.1:c.N/AIntron Variant
MTUS2 transcript variant X6XM_017020502.1:c.N/AIntron Variant
MTUS2 transcript variant X7XM_011535022.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.307G=0.693
1000GenomesAmericanSub694C=0.160G=0.840
1000GenomesEast AsianSub1008C=0.177G=0.823
1000GenomesEuropeSub1006C=0.063G=0.937
1000GenomesGlobalStudy-wide5008C=0.192G=0.808
1000GenomesSouth AsianSub978C=0.210G=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.043G=0.957
The Genome Aggregation DatabaseAfricanSub8706C=0.277G=0.723
The Genome Aggregation DatabaseAmericanSub838C=0.150G=0.850
The Genome Aggregation DatabaseEast AsianSub1606C=0.182G=0.818
The Genome Aggregation DatabaseEuropeSub18486C=0.079G=0.920
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.144G=0.855
The Genome Aggregation DatabaseOtherSub302C=0.070G=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.154G=0.845
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.043G=0.957
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
rs3271272.28E-05nicotine smoking19268276

eQTL of rs327127 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 rs327127 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 )
chr132954013929540189E08121239
chr132955697429557024E08138074
chr132955723129557298E08138331
chr132955736129557440E08138461