rs928302

Homo sapiens
C>T
TMPRSS3 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0073 (8884/121380,ExAC)
T=0087 (2625/29974,GnomAD)
T=0088 (2563/29116,TOPMED)
C==0080 (1050/13006,GO-ESP)
T=0103 (516/5008,1000G)
T=0073 (281/3854,ALSPAC)
T=0074 (275/3708,TWINSUK)
chr21:42389975 (GRCh38.p7) (21q22.3)
ND
GWASdb2
7   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.42389975C>T
GRCh37.p13 chr 21NC_000021.8:g.43810084C>T
TMPRSS3 RefSeqGeneNG_011629.1:g.11117G>A

Gene: TMPRSS3, transmembrane protease, serine 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMPRSS3 transcript variant CNM_032404.2:c.N/AGenic Upstream Transcript Variant
TMPRSS3 transcript variant DNM_032405.1:c.157G>AV [GTC]> I [ATC]Coding Sequence Variant
transmembrane protease serine 3 isoform 3NP_115781.1:p.Val...NP_115781.1:p.Val53IleV [Val]> I [Ile]Missense Variant
TMPRSS3 transcript variant ANM_024022.2:c.157G>AV [GTC]> I [ATC]Coding Sequence Variant
transmembrane protease serine 3 isoform 1NP_076927.1:p.Val...NP_076927.1:p.Val53IleV [Val]> I [Ile]Missense Variant
TMPRSS3 transcript variant FNM_001256317.1:c....NM_001256317.1:c.157G>AV [GTC]> I [ATC]Coding Sequence Variant
transmembrane protease serine 3 isoform 4NP_001243246.1:p....NP_001243246.1:p.Val53IleV [Val]> I [Ile]Missense Variant
TMPRSS3 transcript variant GNR_046020.1:n.111...NR_046020.1:n.1113G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.900T=0.100
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.783T=0.217
1000GenomesEuropeSub1006C=0.942T=0.058
1000GenomesGlobalStudy-wide5008C=0.897T=0.103
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.927T=0.073
The Exome Aggregation ConsortiumAmericanSub21972C=0.894T=0.105
The Exome Aggregation ConsortiumAsianSub25154C=0.915T=0.084
The Exome Aggregation ConsortiumEuropeSub73346C=0.940T=0.059
The Exome Aggregation ConsortiumGlobalStudy-wide121380C=0.926T=0.073
The Exome Aggregation ConsortiumOtherSub908C=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8726C=0.889T=0.111
The Genome Aggregation DatabaseAmericanSub838C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1618C=0.794T=0.206
The Genome Aggregation DatabaseEuropeSub18490C=0.934T=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.912T=0.087
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.912T=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.926T=0.074
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
18817904Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.Yamaguchi-Kabata YAm J Hum Genet
11137999Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.Scott HSNat Genet
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med
11424922Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.Ben-Yosef TJ Med Genet
28339009Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.Yamada YInt J Mol Med
24033266A systematic approach to assessing the clinical significance of genetic variants.Duzkale HClin Genet

P-Value

SNP ID p-value Traits Study
rs9283021.23E-05nicotine smoking19268276

eQTL of rs928302 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 rs928302 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 )
chr214384393543844056E06833851
chr214376437443764428E069-45656
chr214376450143764666E069-45418
chr214376472743765132E069-44952
chr214379513143795245E070-14839
chr214376437443764428E071-45656
chr214376450143764666E071-45418
chr214380903643809928E072-156
chr214381011343810240E07229
chr214376437443764428E074-45656
chr214376450143764666E074-45418
chr214376472743765132E074-44952
chr214380903643809928E074-156