rs193302933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193302933(C;C) |
Make rs193302933(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 10663 |
Gene | ND4L |
is a | snp |
is | mentioned by |
dbSNP | rs193302933 |
dbSNP (classic) | rs193302933 |
ClinGen | rs193302933 |
ebi | rs193302933 |
HLI | rs193302933 |
Exac | rs193302933 |
Gnomad | rs193302933 |
Varsome | rs193302933 |
LitVar | rs193302933 |
Map | rs193302933 |
PheGenI | rs193302933 |
Biobank | rs193302933 |
1000 genomes | rs193302933 |
hgdp | rs193302933 |
ensembl | rs193302933 |
geneview | rs193302933 |
scholar | rs193302933 |
rs193302933 | |
pharmgkb | rs193302933 |
gwascentral | rs193302933 |
openSNP | rs193302933 |
23andMe | rs193302933 |
SNPshot | rs193302933 |
SNPdbe | rs193302933 |
MSV3d | rs193302933 |
GWAS Ctlg | rs193302933 |
Merged from | Rs199476114, Rs2854121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193302933(C;C) |
Alt | rs193302933(C;C) |
Reference | Rs193302933(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND4L |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.10663T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010353.3, |