rs397514263
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514263(C;T) |
Make rs397514263(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 211383719 |
Gene | ERBB4 |
is a | snp |
is | mentioned by |
dbSNP | rs397514263 |
dbSNP (classic) | rs397514263 |
ClinGen | rs397514263 |
ebi | rs397514263 |
HLI | rs397514263 |
Exac | rs397514263 |
Gnomad | rs397514263 |
Varsome | rs397514263 |
LitVar | rs397514263 |
Map | rs397514263 |
PheGenI | rs397514263 |
Biobank | rs397514263 |
1000 genomes | rs397514263 |
hgdp | rs397514263 |
ensembl | rs397514263 |
geneview | rs397514263 |
scholar | rs397514263 |
rs397514263 | |
pharmgkb | rs397514263 |
gwascentral | rs397514263 |
openSNP | rs397514263 |
23andMe | rs397514263 |
SNPshot | rs397514263 |
SNPdbe | rs397514263 |
MSV3d | rs397514263 |
GWAS Ctlg | rs397514263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514263(T;T) |
Alt | rs397514263(T;T) |
Reference | Rs397514263(C;C) |
Significance | Pathogenic |
Disease | not provided Amyotrophic lateral sclerosis 19 |
Variation | info |
Gene | ERBB4 |
CLNDBN | not provided Amyotrophic lateral sclerosis 19 |
Reversed | 1 |
HGVS | NC_000002.11:g.212248444G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054813.1, RCV000074383.2, |