rs2000974
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs2000974(C;T) |
Make rs2000974(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 1048 |
is a | snp |
is | mentioned by |
dbSNP | rs2000974 |
dbSNP (classic) | rs2000974 |
ClinGen | rs2000974 |
ebi | rs2000974 |
HLI | rs2000974 |
Exac | rs2000974 |
Gnomad | rs2000974 |
Varsome | rs2000974 |
LitVar | rs2000974 |
Map | rs2000974 |
PheGenI | rs2000974 |
Biobank | rs2000974 |
1000 genomes | rs2000974 |
hgdp | rs2000974 |
ensembl | rs2000974 |
geneview | rs2000974 |
scholar | rs2000974 |
rs2000974 | |
pharmgkb | rs2000974 |
gwascentral | rs2000974 |
openSNP | rs2000974 |
23andMe | rs2000974 |
SNPshot | rs2000974 |
SNPdbe | rs2000974 |
MSV3d | rs2000974 |
GWAS Ctlg | rs2000974 |
GMAF | 0.029 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 8254046] Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
[PMID 15841390] Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
[PMID 16172508] The role of selection in the evolution of human mitochondrial genomes.
ClinVar | |
---|---|
Risk | rs2000974(T;T) |
Alt | rs2000974(T;T) |
Reference | Rs2000974(C;C) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_012920.1:m.1048C>T |
CLNSRC | |
CLNACC | RCV000035028.2, |