rs121908552
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908552(A;A) |
Make rs121908552(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 63964587 |
Gene | LOC105371858, SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs121908552 |
dbSNP (classic) | rs121908552 |
ClinGen | rs121908552 |
ebi | rs121908552 |
HLI | rs121908552 |
Exac | rs121908552 |
Gnomad | rs121908552 |
Varsome | rs121908552 |
LitVar | rs121908552 |
Map | rs121908552 |
PheGenI | rs121908552 |
Biobank | rs121908552 |
1000 genomes | rs121908552 |
hgdp | rs121908552 |
ensembl | rs121908552 |
geneview | rs121908552 |
scholar | rs121908552 |
rs121908552 | |
pharmgkb | rs121908552 |
gwascentral | rs121908552 |
openSNP | rs121908552 |
23andMe | rs121908552 |
SNPshot | rs121908552 |
SNPdbe | rs121908552 |
MSV3d | rs121908552 |
GWAS Ctlg | rs121908552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908552(A;A) rs121908552(T;T) |
Alt | rs121908552(A;A) rs121908552(T;T) |
Reference | Rs121908552(G;G) |
Significance | Pathogenic |
Disease | Muscle weakness Myotonia Myotonia congenita Potassium aggravated myotonia not provided |
Variation | info |
Gene | SCN4A |
CLNDBN | Muscle weakness Myotonia Myotonia congenita Potassium aggravated myotonia not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.62041947C>A; NC_000017.10:g.62041947C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000414792.1, RCV000415234.1, RCV000006273.3, RCV000255075.1, |