rs201477273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201477273(A;A) |
Make rs201477273(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89320857 |
Gene | POLG |
is a | snp |
is | mentioned by |
dbSNP | rs201477273 |
dbSNP (classic) | rs201477273 |
ClinGen | rs201477273 |
ebi | rs201477273 |
HLI | rs201477273 |
Exac | rs201477273 |
Gnomad | rs201477273 |
Varsome | rs201477273 |
LitVar | rs201477273 |
Map | rs201477273 |
PheGenI | rs201477273 |
Biobank | rs201477273 |
1000 genomes | rs201477273 |
hgdp | rs201477273 |
ensembl | rs201477273 |
geneview | rs201477273 |
scholar | rs201477273 |
rs201477273 | |
pharmgkb | rs201477273 |
gwascentral | rs201477273 |
openSNP | rs201477273 |
23andMe | rs201477273 |
SNPshot | rs201477273 |
SNPdbe | rs201477273 |
MSV3d | rs201477273 |
GWAS Ctlg | rs201477273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201477273(A;A) |
Alt | rs201477273(A;A) |
Reference | Rs201477273(G;G) |
Significance | Pathogenic |
Disease | not provided not specified Mitochondrial DNA depletion syndrome 4B Progressive sclerosing poliodystrophy |
Variation | info |
Gene | POLG |
CLNDBN | not provided not specified Mitochondrial DNA depletion syndrome 4B, MNGIE type Progressive sclerosing poliodystrophy |
Reversed | 0 |
HGVS | NC_000015.9:g.89864088G>A |
CLNSRC | |
CLNACC | RCV000188591.4, RCV000271465.1, RCV000490261.1, |