rs121908555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | possibility of Hypokalemic periodic paralysis |
Make rs121908555(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 63945608 |
Gene | SCN4A |
is a | snp |
is | mentioned by |
dbSNP | rs121908555 |
dbSNP (classic) | rs121908555 |
ClinGen | rs121908555 |
ebi | rs121908555 |
HLI | rs121908555 |
Exac | rs121908555 |
Gnomad | rs121908555 |
Varsome | rs121908555 |
LitVar | rs121908555 |
Map | rs121908555 |
PheGenI | rs121908555 |
Biobank | rs121908555 |
1000 genomes | rs121908555 |
hgdp | rs121908555 |
ensembl | rs121908555 |
geneview | rs121908555 |
scholar | rs121908555 |
rs121908555 | |
pharmgkb | rs121908555 |
gwascentral | rs121908555 |
openSNP | rs121908555 |
23andMe | rs121908555 |
SNPshot | rs121908555 |
SNPdbe | rs121908555 |
MSV3d | rs121908555 |
GWAS Ctlg | rs121908555 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908555(T;T) |
Alt | rs121908555(T;T) |
Reference | Rs121908555(C;C) |
Significance | Pathogenic |
Disease | Hypokalemic periodic paralysis |
Variation | info |
Gene | SCN4A |
CLNDBN | Hypokalemic periodic paralysis, type 2 |
Reversed | 1 |
HGVS | NC_000017.10:g.62022968G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006280.5, |