rs1057519299
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519299(-;-) |
Make rs1057519299(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 151421321 |
Gene | RMND1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519299 |
dbSNP (classic) | rs1057519299 |
ClinGen | rs1057519299 |
ebi | rs1057519299 |
HLI | rs1057519299 |
Exac | rs1057519299 |
Gnomad | rs1057519299 |
Varsome | rs1057519299 |
LitVar | rs1057519299 |
Map | rs1057519299 |
PheGenI | rs1057519299 |
Biobank | rs1057519299 |
1000 genomes | rs1057519299 |
hgdp | rs1057519299 |
ensembl | rs1057519299 |
geneview | rs1057519299 |
scholar | rs1057519299 |
rs1057519299 | |
pharmgkb | rs1057519299 |
gwascentral | rs1057519299 |
openSNP | rs1057519299 |
23andMe | rs1057519299 |
SNPshot | rs1057519299 |
SNPdbe | rs1057519299 |
MSV3d | rs1057519299 |
GWAS Ctlg | rs1057519299 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519299(-;-) |
Alt | rs1057519299(-;-) |
Reference | Rs1057519299(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 11 |
Variation | info |
Gene | RMND1 |
CLNDBN | Combined oxidative phosphorylation deficiency 11 |
Reversed | 1 |
HGVS | NC_000006.11:g.151742456delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415545.1, |