rs369947678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs369947678(A;A) |
Make rs369947678(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 56565446 |
Gene | UBQLN2 |
is a | snp |
is | mentioned by |
dbSNP | rs369947678 |
dbSNP (classic) | rs369947678 |
ClinGen | rs369947678 |
ebi | rs369947678 |
HLI | rs369947678 |
Exac | rs369947678 |
Gnomad | rs369947678 |
Varsome | rs369947678 |
LitVar | rs369947678 |
Map | rs369947678 |
PheGenI | rs369947678 |
Biobank | rs369947678 |
1000 genomes | rs369947678 |
hgdp | rs369947678 |
ensembl | rs369947678 |
geneview | rs369947678 |
scholar | rs369947678 |
rs369947678 | |
pharmgkb | rs369947678 |
gwascentral | rs369947678 |
openSNP | rs369947678 |
23andMe | rs369947678 |
SNPshot | rs369947678 |
SNPdbe | rs369947678 |
MSV3d | rs369947678 |
GWAS Ctlg | rs369947678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369947678(A;A) rs369947678(G;G) rs369947678(T;T) |
Alt | rs369947678(A;A) rs369947678(G;G) rs369947678(T;T) |
Reference | Rs369947678(C;C) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis 15 |
Variation | info |
Gene | UBQLN2 |
CLNDBN | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia |
Reversed | 0 |
HGVS | NC_000023.10:g.56591879C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022846.4, |