rs199476122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199476122(A;A) |
Make rs199476122(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3697 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs199476122 |
dbSNP (classic) | rs199476122 |
ClinGen | rs199476122 |
ebi | rs199476122 |
HLI | rs199476122 |
Exac | rs199476122 |
Gnomad | rs199476122 |
Varsome | rs199476122 |
LitVar | rs199476122 |
Map | rs199476122 |
PheGenI | rs199476122 |
Biobank | rs199476122 |
1000 genomes | rs199476122 |
hgdp | rs199476122 |
ensembl | rs199476122 |
geneview | rs199476122 |
scholar | rs199476122 |
rs199476122 | |
pharmgkb | rs199476122 |
gwascentral | rs199476122 |
openSNP | rs199476122 |
23andMe | rs199476122 |
SNPshot | rs199476122 |
SNPdbe | rs199476122 |
MSV3d | rs199476122 |
GWAS Ctlg | rs199476122 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476122(A;A) |
Alt | rs199476122(A;A) |
Reference | Rs199476122(G;G) |
Significance | Pathogenic |
Disease | Juvenile myopathy Leber hereditary optic neuropathy with dystonia Leber's optic atrophy |
Variation | info |
Gene | ND1 |
CLNDBN | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber hereditary optic neuropathy with dystonia Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.3697G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010385.4, RCV000010386.2, RCV000056168.1, |