rs551521196
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs551521196(A;A) |
Make rs551521196(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 23767535 |
Gene | CHCHD10, LOC107985577 |
is a | snp |
is | mentioned by |
dbSNP | rs551521196 |
dbSNP (classic) | rs551521196 |
ClinGen | rs551521196 |
ebi | rs551521196 |
HLI | rs551521196 |
Exac | rs551521196 |
Gnomad | rs551521196 |
Varsome | rs551521196 |
LitVar | rs551521196 |
Map | rs551521196 |
PheGenI | rs551521196 |
Biobank | rs551521196 |
1000 genomes | rs551521196 |
hgdp | rs551521196 |
ensembl | rs551521196 |
geneview | rs551521196 |
scholar | rs551521196 |
rs551521196 | |
pharmgkb | rs551521196 |
gwascentral | rs551521196 |
openSNP | rs551521196 |
23andMe | rs551521196 |
SNPshot | rs551521196 |
SNPdbe | rs551521196 |
MSV3d | rs551521196 |
GWAS Ctlg | rs551521196 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs551521196(A;A) |
Alt | rs551521196(A;A) |
Reference | Rs551521196(G;G) |
Significance | Pathogenic |
Disease | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 not specified |
Variation | info |
Gene | CHCHD10 |
CLNDBN | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 not specified |
Reversed | 0 |
HGVS | NC_000022.10:g.24109722G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000192231.1, RCV000429342.1, |