rs200725073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200725073(A;A) |
Make rs200725073(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 110761271 |
Gene | SLC25A46 |
is a | snp |
is | mentioned by |
dbSNP | rs200725073 |
dbSNP (classic) | rs200725073 |
ClinGen | rs200725073 |
ebi | rs200725073 |
HLI | rs200725073 |
Exac | rs200725073 |
Gnomad | rs200725073 |
Varsome | rs200725073 |
LitVar | rs200725073 |
Map | rs200725073 |
PheGenI | rs200725073 |
Biobank | rs200725073 |
1000 genomes | rs200725073 |
hgdp | rs200725073 |
ensembl | rs200725073 |
geneview | rs200725073 |
scholar | rs200725073 |
rs200725073 | |
pharmgkb | rs200725073 |
gwascentral | rs200725073 |
openSNP | rs200725073 |
23andMe | rs200725073 |
SNPshot | rs200725073 |
SNPdbe | rs200725073 |
MSV3d | rs200725073 |
GWAS Ctlg | rs200725073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200725073(A;A) rs200725073(T;T) |
Alt | rs200725073(A;A) rs200725073(T;T) |
Reference | Rs200725073(G;G) |
Significance | Pathogenic |
Disease | NEUROPATHY |
Variation | info |
Gene | SLC25A46 |
CLNDBN | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB |
Reversed | 0 |
HGVS | NC_000005.9:g.110096971G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412631.2, |