rs121908192
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908192(A;A) |
Make rs121908192(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 1985991 |
Gene | GFER |
is a | snp |
is | mentioned by |
dbSNP | rs121908192 |
dbSNP (classic) | rs121908192 |
ClinGen | rs121908192 |
ebi | rs121908192 |
HLI | rs121908192 |
Exac | rs121908192 |
Gnomad | rs121908192 |
Varsome | rs121908192 |
LitVar | rs121908192 |
Map | rs121908192 |
PheGenI | rs121908192 |
Biobank | rs121908192 |
1000 genomes | rs121908192 |
hgdp | rs121908192 |
ensembl | rs121908192 |
geneview | rs121908192 |
scholar | rs121908192 |
rs121908192 | |
pharmgkb | rs121908192 |
gwascentral | rs121908192 |
openSNP | rs121908192 |
23andMe | rs121908192 |
SNPshot | rs121908192 |
SNPdbe | rs121908192 |
MSV3d | rs121908192 |
GWAS Ctlg | rs121908192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908192(A;A) |
Alt | rs121908192(A;A) |
Reference | Rs121908192(G;G) |
Significance | Pathogenic |
Disease | Myopathy not provided |
Variation | info |
Gene | GFER |
CLNDBN | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2035992G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000009228.3, RCV000199876.1, |
[PMID 19409522] The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.