rs928302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs928302(C;T) |
Make rs928302(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42389975 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs928302 |
dbSNP (classic) | rs928302 |
ClinGen | rs928302 |
ebi | rs928302 |
HLI | rs928302 |
Exac | rs928302 |
Gnomad | rs928302 |
Varsome | rs928302 |
LitVar | rs928302 |
Map | rs928302 |
PheGenI | rs928302 |
Biobank | rs928302 |
1000 genomes | rs928302 |
hgdp | rs928302 |
ensembl | rs928302 |
geneview | rs928302 |
scholar | rs928302 |
rs928302 | |
pharmgkb | rs928302 |
gwascentral | rs928302 |
openSNP | rs928302 |
23andMe | rs928302 |
SNPshot | rs928302 |
SNPdbe | rs928302 |
MSV3d | rs928302 |
GWAS Ctlg | rs928302 |
GMAF | 0.1175 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs928302(T;T) |
Alt | rs928302(T;T) |
Reference | Rs928302(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000021.8:g.43810084C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000039342.3, RCV000295968.1, |
[PMID 18817904] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
[PMID 11137999] Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 21
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d