rs41460449
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs41460449(C;C) |
Make rs41460449(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3394 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs41460449 |
dbSNP (classic) | rs41460449 |
ClinGen | rs41460449 |
ebi | rs41460449 |
HLI | rs41460449 |
Exac | rs41460449 |
Gnomad | rs41460449 |
Varsome | rs41460449 |
LitVar | rs41460449 |
Map | rs41460449 |
PheGenI | rs41460449 |
Biobank | rs41460449 |
1000 genomes | rs41460449 |
hgdp | rs41460449 |
ensembl | rs41460449 |
geneview | rs41460449 |
scholar | rs41460449 |
rs41460449 | |
pharmgkb | rs41460449 |
gwascentral | rs41460449 |
openSNP | rs41460449 |
23andMe | rs41460449 |
SNPshot | rs41460449 |
SNPdbe | rs41460449 |
MSV3d | rs41460449 |
GWAS Ctlg | rs41460449 |
GMAF | 0.004677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41460449(C;C) |
Alt | rs41460449(C;C) |
Reference | Rs41460449(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND1 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.3394T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010375.3, |