rs183973249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs183973249(A;G) |
Make rs183973249(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 73981153 |
Gene | TMEM70 |
is a | snp |
is | mentioned by |
dbSNP | rs183973249 |
dbSNP (classic) | rs183973249 |
ClinGen | rs183973249 |
ebi | rs183973249 |
HLI | rs183973249 |
Exac | rs183973249 |
Gnomad | rs183973249 |
Varsome | rs183973249 |
LitVar | rs183973249 |
Map | rs183973249 |
PheGenI | rs183973249 |
Biobank | rs183973249 |
1000 genomes | rs183973249 |
hgdp | rs183973249 |
ensembl | rs183973249 |
geneview | rs183973249 |
scholar | rs183973249 |
rs183973249 | |
pharmgkb | rs183973249 |
gwascentral | rs183973249 |
openSNP | rs183973249 |
23andMe | rs183973249 |
SNPshot | rs183973249 |
SNPdbe | rs183973249 |
MSV3d | rs183973249 |
GWAS Ctlg | rs183973249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs183973249(G;G) |
Alt | rs183973249(G;G) |
Reference | Rs183973249(A;A) |
Significance | Pathogenic |
Disease | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 not provided |
Variation | info |
Gene | TMEM70 |
CLNDBN | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.74893388A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000570.5, RCV000390940.1, |